ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.554G>C (p.Gly185Ala)

dbSNP: rs1555528181
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521940 SCV000619409 likely pathogenic not provided 2017-07-19 criteria provided, single submitter clinical testing The G185A variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The G185A variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The G185A variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Another missense variant in the same residue (G185S) has been reported in the Human Gene Mutation Database in association with very long-chain acyl-CoA dehydrogenase deficiency (Stenson et al., 2014), supporting the functional importance of this region of the protein. In summary, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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