ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.3364G>A (p.Glu1122Lys) (rs61751399)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000085574 SCV001217904 pathogenic not provided 2020-01-08 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 1122 of the ABCA4 protein (p.Glu1122Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs61751399, ExAC 0.01%). This variant has been observed in individual(s) affected with inherited retinal disease (PMID: 9973280, 28512305, 28041643). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 30218). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001073572 SCV001239123 pathogenic Retinal dystrophy 2019-06-28 criteria provided, single submitter clinical testing
OMIM RCV000023141 SCV000044432 pathogenic Stargardt disease 1 2000-02-01 no assertion criteria provided literature only
Retina International RCV000085574 SCV000117712 not provided not provided no assertion provided not provided
NIHR Bioresource Rare Diseases, University of Cambridge RCV000023141 SCV000598966 likely pathogenic Stargardt disease 1 2015-01-01 no assertion criteria provided research
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504768 SCV000598967 likely pathogenic Retinitis pigmentosa 2015-01-01 no assertion criteria provided research

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