ClinVar Miner

Submissions for variant NM_000017.4(ACADS):c.302C>T (p.Ala101Val)

dbSNP: rs1001298373
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489562 SCV000577803 likely pathogenic not provided 2015-05-05 criteria provided, single submitter clinical testing The A101V 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. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Missense variants in nearby residues (G92C, I105N, R107C/G/H, G108D, S111F) have been reported in the Human Gene Mutation Database in association with SCAD (Stenson et al., 2014), supporting the functional importance of this region of the protein. Therefore, A101V is a strong candidate for a pathogenic variant, however the possibility that it is a benign variant cannot be excluded.

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