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]
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  • See Evidence submitted by expert panel for details.

Variant: NM_000018.4(ACADVL):c.1019G>T (p.Gly340Val)

CA287437667

426177 (ClinVar)

Gene: ACADVL
Condition: very long chain acyl-CoA dehydrogenase deficiency
Inheritance Mode: Autosomal recessive inheritance
Link to MONDO
UUID: f0c87d02-94d7-4233-837a-0d203e9c0e1a
Approved on: 2024-08-27
Published on: 2024-08-27

HGVS expressions

NM_000018.4:c.1019G>T
NM_000018.4(ACADVL):c.1019G>T (p.Gly340Val)
NC_000017.11:g.7222807G>T
CM000679.2:g.7222807G>T
NC_000017.10:g.7126126G>T
CM000679.1:g.7126126G>T
NC_000017.9:g.7066850G>T
NG_007975.1:g.7974G>T
NG_008391.2:g.2244C>A
ENST00000356839.10:c.1019G>T
ENST00000322910.9:c.*974G>T
ENST00000350303.9:c.953G>T
ENST00000356839.9:c.1019G>T
ENST00000543245.6:c.1088G>T
ENST00000578824.5:n.168G>T
ENST00000581378.5:c.737G>T
ENST00000582379.1:n.403G>T
ENST00000583858.5:c.48G>T
NM_000018.3:c.1019G>T
NM_001033859.2:c.953G>T
NM_001270447.1:c.1088G>T
NM_001270448.1:c.791G>T
NM_001033859.3:c.953G>T
NM_001270447.2:c.1088G>T
NM_001270448.2:c.791G>T

Uncertain Significance

Met criteria codes 2
PM2_Supporting PP3
Not Met criteria codes 1
PP4

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
ACADVL VCEP
The c.1019G>T (NM_000018.4) variant in ACADVL is a missense variant predicted to cause substitution of glycine by valine at amino acid 340 (p.Gly340Val). At least one individual with this variant was identified by newborn screen, but this information is insufficient to use toward classification (PMID: 26385305, 27246109). This variant is absent from gnomAD v2.1.1 (PM2_Supporting). The computational predictor REVEL gives a score of 0.957, which is above the threshold of 0.75, evidence that correlates with impact to ACADVL function (PP3). In summary, this variant meets the criteria to be classified as a variant of uncertain significance for autosomal recessive very long chain acyl-CoA dehydrogenase (VLCAD) deficiency based on the ACMG/AMP criteria applied, as specified by the ClinGen ACADVL Variant Curation Expert Panel: PM2_Supporting, PP3 (ACADVL VCEP specifications version 1; approved November 9, 2021).
Met criteria codes
PM2_Supporting
This variant is absent from gnomAD v2.1.1 (PM2_Supporting).
PP3
The computational predictor REVEL gives a score of 0.957, which is above the threshold of 0.75, evidence that correlates with impact to ACADVL function (PP3).
Not Met criteria codes
PP4
At least one individual with this variant was identified by newborn screen, but this information is insufficient to use toward classification (PMID: 26385305, 27246109).
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