ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.4124C>T (p.Ala1375Val) (rs1267585230)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522465 SCV000619521 likely pathogenic not provided 2018-12-03 criteria provided, single submitter clinical testing The A1375V variant in the ABCA4 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The A1375V variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). The A1375V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, in-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. We interpret A1375V as a likely pathogenic variant.

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