Evidence Repository - Clinical Genome Resources

The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]

Link to SEPIO compliant JSON-LD document

Variant: NM_000018.4(ACADVL):c.578G>A (p.Gly193Asp)

CA397723203

432108 (ClinVar)

Gene: ACADVL

Condition: very long chain acyl-CoA dehydrogenase deficiency

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: 28ce5b8d-5da1-4493-91c6-5a70d167d542

HGVS expressions

NM_000018.4:c.578G>A

NM_000018.4(ACADVL):c.578G>A (p.Gly193Asp)

NC_000017.11:g.7221638G>A

CM000679.2:g.7221638G>A

NC_000017.10:g.7124957G>A

CM000679.1:g.7124957G>A

NC_000017.9:g.7065681G>A

NG_007975.1:g.6805G>A

NG_008391.2:g.3413C>T

ENST00000356839.10:c.578G>A

ENST00000322910.9:c.*533G>A

ENST00000350303.9:c.512G>A

ENST00000356839.9:c.578G>A

ENST00000543245.6:c.647G>A

ENST00000577191.5:n.655G>A

ENST00000577433.5:n.786G>A

ENST00000577857.5:n.394G>A

ENST00000579286.5:n.759G>A

ENST00000579886.2:c.416G>A

ENST00000580365.1:n.309G>A

ENST00000581378.5:c.296G>A

ENST00000581562.5:n.525-314G>A

ENST00000583312.5:c.578G>A

ENST00000583760.1:n.360G>A

NM_000018.3:c.578G>A

NM_001033859.2:c.512G>A

NM_001270447.1:c.647G>A

NM_001270448.1:c.350G>A

NM_001033859.3:c.512G>A

NM_001270447.2:c.647G>A

NM_001270448.2:c.350G>A

Uncertain Significance

PM2_Supporting PP3

Evidence Links 0

Expert Panel

ACADVL VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

ACADVL VCEP

The NM_000018.4 c.578G>A (p.Gly193Asp) in ACADVL is a missense variant predicted to cause substitution of glycine by aspartic acid at amino acid 193 (p. Gly193Asp). The highest population minor allele frequency in gnomAD v4.0.0 is 0.000004 in Non-Finnish European population, which is lower than the ClinGen ACADVL Variant Curation Expert Panel threshold (<0.001) for PM2_Supporting, meeting this criterion (PM2_Supporting). The computational predictor REVEL gives a score of 0.961, which is above the threshold of 0.75, evidence that correlates with impact to ACADVL function (PP3). Due to limited evidence, this variant is 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).

PM2_Supporting

). The highest population minor allele frequency in gnomAD v4.0.0 is 0.000004 in Non-Finnish European population, which is lower than the ClinGen ACADVL Variant Curation Expert Panel threshold (<0.001) for PM2_Supporting, meeting this criterion (PM2_Supporting).

PP3

The computational predictor REVEL gives a score of 0.961, which is above the threshold of 0.75, evidence that correlates with impact to ACADVL function (PP3).

Approved on: 2024-03-26

Published on: 2024-03-26

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