ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.3268T>C (p.Ser1090Pro) (rs1131691351)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000492921 SCV000581933 likely pathogenic not provided 2017-11-08 criteria provided, single submitter clinical testing The S1090P variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant is not observed in large population cohorts (Lek et al., 2016). S1090P 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 within the ABC transporter 1 domain that is conserved in mammals, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Missense variants in nearby residues (E1087K/D, T1089I, G1091E, D1093E, P1094T/R) have been reported in the Human Gene Mutation Database in association with ABCA4-related disorders (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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