ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.2915C>A (p.Thr972Asn) (rs61749451)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000085523 SCV001218249 pathogenic not provided 2019-12-24 criteria provided, single submitter clinical testing This sequence change replaces threonine with asparagine at codon 972 of the ABCA4 protein (p.Thr972Asn). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and asparagine. This variant is present in population databases (rs61749451, ExAC 0.01%). This variant has been observed in individual(s) with Stargardt disease or retinitis pigmentosa (PMID: 29925512, 28041643, 28559085). 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: 99174). 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 RCV000504717 SCV001240215 likely pathogenic Retinal dystrophy 2019-01-29 criteria provided, single submitter clinical testing
Retina International RCV000085523 SCV000117660 not provided not provided no assertion provided not provided
NIHR Bioresource Rare Diseases, University of Cambridge RCV000505078 SCV000598954 likely pathogenic Retinitis pigmentosa 2015-01-01 no assertion criteria provided research
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504717 SCV000598955 likely pathogenic Retinal dystrophy 2015-01-01 no assertion criteria provided research

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