ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.3064G>A (p.Glu1022Lys) (rs61749459)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000085545 SCV000511889 likely pathogenic not provided 2016-10-12 criteria provided, single submitter clinical testing The E1022K variant has been published in association with ABCA4-related disorders (Webster et al., 2001; Stone et al., 2003; Stenirri et al., 2004; Fumagalli et al., 2001; Fujinami et al., 2013; Fujinami et al., 2015). The E1022K variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The E1022K 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 (T1019A, T1019M, F1026L) have been reported in the Human Gene Mutation Database in association with Stargardt disease (Stenson et al., 2014). Therefore, based on the currently available information, E1022K is likely pathogenic.
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg RCV000408496 SCV000281858 likely pathogenic Stargardt disease 1 2016-01-01 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000408496 SCV000598958 likely pathogenic Stargardt disease 1 2015-01-01 no assertion criteria provided research
Retina International RCV000085545 SCV000117682 not provided not provided no assertion provided not provided

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