ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1522C>T (p.Arg508Cys) (rs138157885)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000321513 SCV000359488 uncertain significance ABCA4-Related Disorders 2017-04-28 criteria provided, single submitter clinical testing The ABCA4 c.1522C>T (p.Arg508Cys) missense variant has been reported in two studies in which it is found in a total of three individuals. The variant was found in a compound heterozygous state in one individual with Stargardt disease and another with cone-rod dystrophy and in a state of unknown zygosity in one individual with macular dystrophy (Michaelides et al. 2007; Jiang et al. 2016). The p.Arg508Cys variant was absent from 100 controls and is reported at a frequency of 0.00047 in the European American population of the Exome Sequencing Project. Based on the evidence, the p.Arg508Cys variant 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.
Illumina Clinical Services Laboratory,Illumina RCV000378419 SCV000359489 uncertain significance Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000286324 SCV000359490 uncertain significance Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing The c.1522C>T (p.Arg508Cys) variant has been reported in two studies and is found in a total of three patients with various phenotypes including one in a compound heterozygous state with Stargardt disease, one in a compound heterozygous state with cone-rod dystrophy and one with macular dystrophy without clear zygosity information (Michaelides et al. 2007; Jiang et al. 2016). The p.Arg508Cys variant was absent from 100 controls and is reported at a frequency of 0.00047 in the European American population of the Exome Sequencing Project. Based on the evidence, the p.Arg508Cys variant is classified as a variant of unknown significance but suspicious for pathogenicity for ABCA4-related disorders.

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