ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.4594G>A (p.Asp1532Asn) (rs62642574)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000085657 SCV000229391 pathogenic not provided 2015-02-24 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg RCV000177510 SCV000281897 likely pathogenic Stargardt disease 1 2016-01-01 criteria provided, single submitter clinical testing
Invitae RCV000085657 SCV001201993 pathogenic not provided 2020-10-19 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 1532 of the ABCA4 protein (p.Asp1532Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs62642574, ExAC 0.01%). This variant has been observed in individual(s) with Stargardt disease (PMID: 9973280, 22589445, 19217903, 24409374, 11726554, 29925512, Invitae). 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: 99304). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Benign; Align-GVGD: Class C1). For these reasons, this variant has been classified as Pathogenic. 5
Blueprint Genetics RCV001074286 SCV001239859 pathogenic Retinal dystrophy 2019-05-27 criteria provided, single submitter clinical testing
Retina International RCV000085657 SCV000117797 not provided not provided no assertion provided not provided
Sharon lab,Hadassah-Hebrew University Medical Center RCV001002826 SCV001160843 likely pathogenic maculopathy 2019-06-23 no assertion criteria provided research

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