ClinVar Miner

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

gnomAD frequency: 0.00076  dbSNP: rs61753019
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) 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 uncertain significance Severe early-childhood-onset retinal dystrophy 2024-01-18 criteria provided, single submitter clinical testing
Invitae RCV000085694 SCV001206561 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001073381 SCV001238922 uncertain significance Retinal dystrophy 2019-01-05 criteria provided, single submitter clinical testing
Illumina Laboratory Services, 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.
PreventionGenetics, part of Exact Sciences RCV003415863 SCV004118290 uncertain significance ABCA4-related condition 2023-03-06 criteria provided, single submitter clinical testing The ABCA4 c.5056G>A variant is predicted to result in the amino acid substitution p.Val1686Met. This variant has been reported along with a second ABCA4 variant in several individuals with Stargardt disease (Zernant et al. 2014. PubMed ID: 25066811; Table S1 in Fujinami et al. 2018. PubMed ID: 29925512; Duncker et al. 2013. PubMed ID: 24071957; van Huet et al. 2015. PubMed ID: 25999674). This variant is reported in 0.74% of alleles in individuals of Ashkenazi Jewish descent and with a global allele frequency of 0.053% in gnomAD (http://gnomad.broadinstitute.org/variant/1-94485278-C-T), which is relatively common. This variant has conflicting classifications in ClinVar ranging from pathogenic to benign. Although we suspect that this variant may be pathogenic, at this time, the clinical significance of this variant is uncertain due to the conflicting population genetic frequencies and the clinical genetic evidence.
Retina International RCV000085694 SCV000117834 not provided not provided no assertion provided not provided

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