ClinVar Miner

Submissions for variant NM_000350.2(ABCA4):c.3210_3211insGT (p.Ser1071Valfs) (rs61750064)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001000814 SCV001157879 pathogenic not specified 2018-10-02 criteria provided, single submitter clinical testing The ABCA4 c.3210_3211dupGT; p.Ser1071fs (also described as 3211insGT, 3212insGT, and c.3211_3212insGT) variant (rs387906385) is reported in the medical literature in individuals with Stargardt disease or ABCA4-related disorders with or without an additional pathogenic ABCA4 variant (Alikmets 1997, Briggs 2001, Eisenberger 2013, Porto 2017, Riveiro-Alvarez 2013). The variant is reported in the ClinVar database as pathogenic by two sources (Variation ID: 372290) and in the general population with an allele frequency of 0.002% (5/246242 alleles) in the Genome Aggregation Database. This variant causes a frameshift by duplicating 2 nucleotides, so it is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Considering available information, this variant is classified as pathogenic.
OMIM RCV000008338 SCV000028546 pathogenic Stargardt disease 1 1998-01-01 no assertion criteria provided literature only
Retina International RCV000085558 SCV000117695 not provided not provided no assertion provided not provided

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