Evidence Repository
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_001130987.2(DYSF):c.5132C>T (p.Ser1711Phe)

CA347220545

3677022 (ClinVar)

Gene: DYSF (HGNC:8291)
Condition: autosomal recessive limb-girdle muscular dystrophy (MONDO:0015152)
Inheritance Mode: Autosomal recessive inheritance
UUID: 5ff7b1e4-45d3-413a-913a-597c64caa713
Approved on: 2026-03-23
Published on: 2026-04-10

HGVS expressions

NM_001130987.2:c.5132C>T
NM_001130987.2(DYSF):c.5132C>T (p.Ser1711Phe)
NC_000002.12:g.71664396C>T
CM000664.2:g.71664396C>T
NC_000002.11:g.71891526C>T
CM000664.1:g.71891526C>T
NC_000002.10:g.71745034C>T
NG_008694.1:g.215774C>T
ENST00000698057.1:c.2546C>T
ENST00000698058.1:c.1763C>T
ENST00000698059.1:c.1871C>T
ENST00000258104.8:c.5015C>T
ENST00000410020.8:c.5132C>T
ENST00000258104.7:c.5015C>T
ENST00000394120.6:c.5018C>T
ENST00000409366.5:c.5081C>T
ENST00000409582.7:c.5129C>T
ENST00000409651.5:c.5111C>T
ENST00000409744.5:c.5039C>T
ENST00000409762.5:c.5066C>T
ENST00000410020.7:c.5132C>T
ENST00000410041.1:c.5069C>T
ENST00000413539.6:c.5108C>T
ENST00000429174.6:c.5078C>T
ENST00000479049.6:n.1900C>T
NM_001130455.1:c.5018C>T
NM_001130976.1:c.4973C>T
NM_001130977.1:c.5036C>T
NM_001130978.1:c.5078C>T
NM_001130979.1:c.5108C>T
NM_001130980.1:c.5066C>T
NM_001130981.1:c.5129C>T
NM_001130982.1:c.5111C>T
NM_001130983.1:c.5081C>T
NM_001130984.1:c.5039C>T
NM_001130985.1:c.5069C>T
NM_001130986.1:c.4976C>T
NM_001130987.1:c.5132C>T
NM_003494.3:c.5015C>T
NM_001130455.2:c.5018C>T
NM_001130976.2:c.4973C>T
NM_001130977.2:c.5036C>T
NM_001130978.2:c.5078C>T
NM_001130979.2:c.5108C>T
NM_001130980.2:c.5066C>T
NM_001130981.2:c.5129C>T
NM_001130982.2:c.5111C>T
NM_001130983.2:c.5081C>T
NM_001130984.2:c.5039C>T
NM_001130985.2:c.5069C>T
NM_001130986.2:c.4976C>T
NM_003494.4:c.5015C>T
More

Likely Pathogenic

Met criteria codes 3
PM2_Supporting PM3 PP4_Strong
Not Met criteria codes 2
PP3 PM5

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 DYSF Version 2.0.0

Criteria Specification Approval History
Criteria Specifications for this VCEP
Evidence submitted by expert panel
Limb Girdle Muscular Dystrophy VCEP
The NM_003494.4: c.5015C>T variant in DYSF, which is also known as NM_001130987.2: c.5132C>T p.(Ser1711Phe), is a missense variant predicted to cause substitution of serine to phenylalanine at amino acid 1672, p.(Ser1672Phe). This variant has been reported in at least two patients with features consistent with LGMD (PMID: 33927379, 32528171; LOVD DYSF_001234), where it was identified in unconfirmed phase with a pathogenic variant in both (NM_003494.4: c.797G>A (p.Gly266Glu), 0.5 pts, MYO-SEQ internal data communication, PMID: 32528171; c.799_800del p.(Phe267LeufsTer5), 0.5 pts, PMID: 33927379, LOVD Individuals #00327046 and #0032760) (PM3). At least one of these individuals displayed progressive limb girdle muscle weakness and absent dysferlin on muscle biopsy (PMID: 32528171, MYO-SEQ internal data communication; PP4_Strong). This variant is absent from gnomAD v.4.1.0, meeting the criteria for PM2_Supporting. The computational predictor REVEL gives a score of 0.592, which is below the LGMD VCEP threshold of ≥0.70 (PP3 not met). In summary, this variant meets the criteria to be classified as Likely pathogenic 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 2.0.0; 03/23/2026): PM3, PP4_Strong, PM2_Supporting.
Met criteria codes
PM2_Supporting
This variant is absent from gnomAD v.4.1.0, meeting the criteria for PM2_Supporting.
PM3
This variant has been reported in at least two patients with features consistent with LGMD (PMID: 33927379, 32528171; LOVD DYSF_001234), where it was identified in unconfirmed phase with a pathogenic variant in both (NM_003494.4: c.797G>A (p.Gly266Glu), 0.5 pts, MYO-SEQ internal data communication, PMID: 32528171; c.799_800del p.(Phe267LeufsTer5), 0.5 pts, PMID: 33927379, LOVD Individuals #00327046 and #0032760) (PM3). Curated variant is absent from gnomAD, so co-occurrence could not be assessed. no other cases available
PP4_Strong
At least one of these individuals displayed progressive limb girdle muscle weakness and absent dysferlin on muscle biopsy (PMID: 32528171, MYO-SEQ internal data communication; PP4_Strong).
Not Met criteria codes
PP3
The computational predictor REVEL gives a score of 0.592, which is below the LGMD VCEP threshold of ≥0.70. SpliceAI Donor Gain 0.04
PM5
no other missense changes at this position seem to have been reported.
Curation History
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