ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.759G>A (p.Gly253=)

gnomAD frequency: 0.00014  dbSNP: rs148073142
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000432693 SCV000526898 likely benign not specified 2016-05-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000874511 SCV001016697 likely benign Very long chain acyl-CoA dehydrogenase deficiency 2024-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004703964 SCV005218621 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003959929 SCV004773714 likely benign ACADVL-related disorder 2021-11-18 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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