ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.5056G>A (p.Val1686Met) (rs61753019)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000085694 SCV000202088 uncertain significance not provided 2014-04-16 criteria provided, single submitter clinical testing
GeneDx RCV000085694 SCV000511905 uncertain significance not provided 2021-03-17 criteria provided, single submitter clinical testing Identified as a single het variant or phase unknown with other ABCA4 variants in patients with ABCA4-related disorders in published literature (Haer-Wigman et al., 2017; Fujinami et al., 2019; Van-Huet et al., 2015; Duncker et al., 2013); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 24071957, 29706639, 25999674, 28224992, 25066811, 14517951, 29925512)
Mendelics RCV000986353 SCV001135336 pathogenic Stargardt disease 1 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000085694 SCV001206561 uncertain significance not provided 2020-08-11 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 1686 of the ABCA4 protein (p.Val1686Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs61753019, ExAC 0.1%). This variant has been observed in individual(s) with Stargardt disease or cone dystrophy (PMID: 25066811, 29925512). 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: 99341). 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: Probably Damaging; Align-GVGD: Class C1). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. 5
Blueprint Genetics RCV001073381 SCV001238922 uncertain significance Retinal dystrophy 2019-01-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001099771 SCV001256251 uncertain significance ABCA4-Related Disorders 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Retina International RCV000085694 SCV000117834 not provided not provided no assertion provided not provided

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