ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.6286G>A (p.Glu2096Lys) (rs61750646)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000085804 SCV000344272 uncertain significance not provided 2016-09-02 criteria provided, single submitter clinical testing
GeneDx RCV000085804 SCV000616627 pathogenic not provided 2017-10-24 criteria provided, single submitter clinical testing The E2096K variant in the ABCA4 gene has been published previously in association with Stargardt disease (Lewis et al., 1999; Shroyer et al., 2001; Utz et al., 2013). The variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). E2096K 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, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Additionally, E2096K has been shown to significantly reduce ATPase activity of the ABCA4 protein (Sun et al., 2000). In summary, we consider this variant to be pathogenic
Retina International RCV000085804 SCV000117947 not provided not provided no assertion provided not provided

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