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]

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Variant: NM_000018.4(ACADVL):c.1967G>C (p.Ter656Ser)

CA397726275

932839 (ClinVar)

Gene: ACADVL

Condition: very long chain acyl-CoA dehydrogenase deficiency

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: 3cafbf78-61ed-4457-93a9-07e53663786d

Approved on: 2023-06-29

Published on: 2023-06-29

HGVS expressions

NM_000018.4:c.1967G>C

NM_000018.4(ACADVL):c.1967G>C (p.Ter656Ser)

NC_000017.11:g.7225096G>C

CM000679.2:g.7225096G>C

NC_000017.10:g.7128415G>C

CM000679.1:g.7128415G>C

NC_000017.9:g.7069139G>C

NG_007975.1:g.10263G>C

NG_033038.1:g.14449C>G

ENST00000356839.10:c.1967G>C

ENST00000322910.9:c.*1922G>C

ENST00000350303.9:c.1901G>C

ENST00000356839.9:c.1967G>C

ENST00000542255.6:n.846G>C

ENST00000543245.6:c.2036G>C

ENST00000578033.1:n.392G>C

ENST00000578319.5:n.548G>C

ENST00000578711.1:n.1592G>C

ENST00000578809.5:n.539G>C

ENST00000579425.5:n.1083G>C

ENST00000583848.5:n.333G>C

ENST00000583850.5:n.738G>C

ENST00000583858.5:n.898G>C

NM_000018.3:c.1967G>C

NM_001033859.2:c.1901G>C

NM_001270447.1:c.2036G>C

NM_001270448.1:c.1739G>C

NM_001033859.3:c.1901G>C

NM_001270447.2:c.2036G>C

NM_001270448.2:c.1739G>C

Uncertain Significance

PM2_Supporting PM4

Evidence Links 0

Expert Panel

ACADVL VCEP

Criteria Specification Information

Criteria Specification: ClinGen ACADVL Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1

Criteria Specification Approval History

Criteria Specifications for this VCEP

Evidence submitted by expert panel

ACADVL VCEP

The c.1967G>C variant is predicted to cause a change in the length of the protein (p.Ter656SerextTer54) due to a predicted in-frame insertion of 53 amino acids in a non-repeat region (PM4). This variant is absent from gnomAD v2.1.1 (PM2_Supporting). To our knowledge, functional assays have not been reported for this variant. To our knowledge, this variant has not been reported in the literature in any individuals with VLCADD. In summary, this variant meets the criteria to be classified as 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: PM4, PM2_Supporting (ClinGen ACADVL VCEP specifications version#1.0; approved 12-29-22).

PM2_Supporting

PM2_Supporting is met. This variant is absent from gnomAD v2.1.1 (PM2_Supporting).

PM4

PM4 is met. The c.1967G>C variant is predicted to cause a change in the length of the protein (p.Ter656SerextTer54) due to a predicted in-frame insertion of 53 amino acids in a non-repeat region (PM4).

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