ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.5932A>G (p.Lys1978Glu) (rs1064793014)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486602 SCV000564539 likely pathogenic not provided 2017-09-26 criteria provided, single submitter clinical testing The K1978E variant has been published as a pathogenic variant in association with Stargardt disease (Zernant et al., 2014) and observed in trans with other pathogenic variants in patients tested at GeneDx. The K1978E variant is not observed in large population cohorts (Lek et al., 2016). The K1978E 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. Missense variants in nearby residues (G1977S, T1979I, T1981R) have been reported in the Human Gene Mutation Database in association with ABCA4-related disorders (Stenson et al., 2014). In summary, based on the currently available information, this variant is likely pathogenic.
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504970 SCV000599005 likely pathogenic Retinal dystrophy 2015-01-01 no assertion criteria provided research

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