ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.5881G>A (p.Gly1961Arg) (rs142253670)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg RCV000408510 SCV000281938 likely pathogenic Stargardt disease 1 2016-01-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000778996 SCV000915437 likely pathogenic ABCA4-Related Disorders 2018-10-24 criteria provided, single submitter clinical testing The ABCA4 c.5881G>A (p.Gly1961Arg) missense variant has been reported in three studies in which it is found in a total of three individuals with Stargardt disease in a compound heterozygous state, in two with a frameshift variant on the second allele and in one with a missense variant on the second allele (Cideciyan et al. 2009; Riveiro-Alvarez et al. 2013; Jiang et al. 2016). The variant has not been reported in the literature in any other conditions potentially associated with variants in the ABCA4 gene. The p.Gly1961Arg variant was absent from 100 control individuals, but is reported at a frequency of 0.00024 in the South Asian population of the Exome Aggregation Consortium. Based on the evidence, the p.Gly1961Arg variant is classified as likely pathogenic for Stargardt disease. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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