ClinVar Miner

Submissions for variant NM_000330.3(RS1):c.422G>A (p.Arg141His) (rs61752159)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411096 SCV000485787 likely pathogenic Juvenile retinoschisis 2016-11-04 criteria provided, single submitter clinical testing
GeneDx RCV000085301 SCV000490781 pathogenic not provided 2018-12-20 criteria provided, single submitter clinical testing The R141H missense variant in the RS1 gene has been reported previously in association with X-linked juvenile retinoschisis (Retinoschisis Consortium, 1998; Wang et al., 2006; Lesch et al., 2008; Shukla et al. 2007; Park et al. 2000). The R141H variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. R141H is a conservative amino acid substitution that occurs at a position that is conserved across species. Therefore, we interpret R141H to be a pathogenic variant.
Retina International RCV000085301 SCV000117438 not provided not provided no assertion provided not provided

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