The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
  • Gene obtained from curated document aligns with the Allele Registry but not with ClinVar data
  • No CSPEC computed assertion could be determined for this classification!


Variant: NM_000337.6(SGCD):c.91C>T (p.Arg31Trp)

CA3530486

652862 (ClinVar)

Gene: SGCD
Condition: autosomal recessive limb-girdle muscular dystrophy
Inheritance Mode: Autosomal recessive inheritance
UUID: 6d79dee2-9e4a-45cc-b64b-3a04b1690f9f
Approved on: 2025-01-08
Published on: 2025-01-08

HGVS expressions

NM_000337.6:c.91C>T
NM_000337.6(SGCD):c.91C>T (p.Arg31Trp)
NC_000005.10:g.156344576C>T
CM000667.2:g.156344576C>T
NC_000005.9:g.155771586C>T
CM000667.1:g.155771586C>T
NC_000005.8:g.155704164C>T
NG_008693.2:g.479233C>T
ENST00000337851.9:c.91C>T
ENST00000337851.8:c.91C>T
ENST00000435422.7:c.88C>T
ENST00000517913.5:c.91C>T
ENST00000524347.2:c.91C>T
NM_000337.5:c.91C>T
NM_001128209.1:c.88C>T
NM_172244.2:c.91C>T
NM_001128209.2:c.88C>T
NM_172244.3:c.91C>T
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Uncertain Significance

Met criteria codes 1
PP3
Not Met criteria codes 25
PP4 PP1 PP2 PM6 PM2 PM3 PM1 PM5 PM4 PVS1 BA1 BS2 BS4 BS3 BS1 BP2 BP3 BP4 BP1 BP5 BP7 PS1 PS2 PS3 PS4

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specification: ClinGen Limb Girdle Muscular Dystrophy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SGCD Version 1.0.0

Criteria Specification Approval History
Criteria Specifications for this VCEP
Evidence submitted by expert panel
Limb Girdle Muscular Dystrophy VCEP
The NM_000337.6: c.91C>T variant in SGCD is a missense variant predicted to cause substitution of arginine by tryptophan at amino acid 31 (p.Arg31Trp). The highest minor allele frequency for this variant is 0.00009898 in the South Asian population of gnomAD v2.1.1 (3/30310 exome chromosomes), which is higher than the LGMD VCEP threshold for PM2_Supporting (0.00009) (criterion not met). The computational predictor REVEL gives a score of 0.835, which is above the threshold of ≥0.70, evidence that correlates with impact to SGCD function (PP3). In summary, at this time there is insufficient evidence to classify this variant as pathogenic or benign, and it remains a variant of uncertain significance for autosomal recessive limb girdle muscular dystrophy based on the ACMG/AMP criteria applied, as specified by the ClinGen LGMD VCEP (LGMD VCEP specifications version 1.0.0; 01/08/2025): PP3.
Met criteria codes
PP3
The computational predictor REVEL gives a score of 0.835, which is above the threshold of ≥0.70, evidence that correlates with impact to SGCD function (PP3).
Not Met criteria codes
PP4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PP1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PP2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM6
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM2
The highest minor allele frequency for this variant is 0.00009898 in the South Asian population of gnomAD v2.1.1 (3/30310 exome chromosomes), which is higher than the LGMD VCEP threshold for PM2_Supporting (0.00009) (criterion not met).
PM3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM5
c.91C>G (p.Arg31Gly) = LB c.92G>A (p.Arg31Gln) = VUS
PM4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PVS1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BA1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BS2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BS4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BS3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BS1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP5
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP7
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PS1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PS2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PS3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PS4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
Curation History
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