ClinVar Miner

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

dbSNP: rs2071416769
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen ACADVL Variant Curation Expert Panel, ClinGen RCV001200793 SCV003936873 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2023-06-29 reviewed by expert panel curation 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).
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV001200793 SCV001364994 pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2019-11-01 criteria provided, single submitter clinical testing The NM_000018.3:c.1967G>C (NP_000009.1:p.Ter656SerextTer54) [GRCH38: NC_000017.11:g.7225096G>C] variant in ACADVL gene is interpretated to be Pathogenic based on ACMG guidelines (PMID: 25741868). This variant has been reported. This variant meets the following evidence codes reported in the ACMG guidelines: PVS1, PS3
Labcorp Genetics (formerly Invitae), Labcorp RCV001200793 SCV004394933 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2024-01-31 criteria provided, single submitter clinical testing This sequence change disrupts the translational stop signal of the ACADVL mRNA. It is expected to extend the length of the ACADVL protein by 54 additional amino acid residues. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ACADVL-related conditions. ClinVar contains an entry for this variant (Variation ID: 932839). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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