ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.3212C>T (p.Ser1071Leu) (rs61750065)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000085559 SCV000577305 likely pathogenic not provided 2017-11-15 criteria provided, single submitter clinical testing The S1071L variant has been published as a pathogenic variant including on the opposite allele (in trans) with other pathogenic variants, in association with ABCA4-related disorders (Lewis et al., 1999; Stenirri et al., 2004; Müller et al., 2015). The S1071L variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The S1071L variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. In summary, this variant is likely pathogenic
Retina International RCV000085559 SCV000117696 not provided not provided no assertion provided not provided

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