ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.872C>T (p.Pro291Leu) (rs190540405)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000180145 SCV000232533 uncertain significance not provided 2014-08-19 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000779007 SCV000915448 uncertain significance ABCA4-Related Disorders 2018-10-25 criteria provided, single submitter clinical testing The ABCA4c.872C>T (p.Pro291Leu) missense variant has been reported in four studies, in which it is found in a total of five individuals with Stargardt disease, including in three in a compound heterozygous state and in two in a heterozygous state (Ernest et al. 2009; Roberts et al. 2012; Teussink et al. 2015; Nassisi et al. 2018). The variant has not been reported in the literature in association with autosomal recessive cone rod dystrophy, autosomal recessive retinitis pigmentosa, or autosomal dominant macular degeneration. The p.Pro291Leu variant was absent from 100 controls and is reported at a frequency of 0.004409 in the Latino population of the Exome Aggregation Consortium. Based on the limited evidence the p.Pro291Leu is classified as a variant of unknown significance but suspicious for pathogenicity for ABCA4-related disorders. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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