ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1529T>C (p.Leu510Pro) (rs886039299)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000256040 SCV000321337 likely pathogenic not provided 2018-10-22 criteria provided, single submitter clinical testing The L510P variant in the ABCA4 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. However, this variant has been observed multiple times with a pathogenic variant in unrelated patients referred for genetic testing at GeneDx, but it is not known whether the variants occurred on the same (in cis) or on different (in trans) chromosomes in all. The L510P variant is not observed in large population cohorts (Lek et al., 2016). The L510P variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. We interpret the L510P variant as a likely pathogenic variant.

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