ClinVar Miner

Submissions for variant NM_000330.4(RS1):c.574C>T (p.Pro192Ser)

dbSNP: rs61753174
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000085331 SCV001209192 pathogenic not provided 2024-10-10 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 192 of the RS1 protein (p.Pro192Ser). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with X-linked retinoschisis (PMID: 9326935, 10533068, 28348004, 30551202, 30652005). ClinVar contains an entry for this variant (Variation ID: 98990). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt RS1 protein function with a positive predictive value of 95%. Experimental studies have shown that this missense change affects RS1 function (PMID: 20809529). For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001075730 SCV001241359 pathogenic Retinal dystrophy 2019-05-10 criteria provided, single submitter clinical testing
Baylor Genetics RCV000169568 SCV005055460 pathogenic Juvenile retinoschisis 2023-11-22 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV001075730 SCV005069204 pathogenic Retinal dystrophy 2016-01-01 criteria provided, single submitter clinical testing
Juno Genomics, Hangzhou Juno Genomics, Inc RCV000169568 SCV005417636 pathogenic Juvenile retinoschisis criteria provided, single submitter clinical testing PM2_Supporting+PS4+PP4+PP3_Strong
Retina International RCV000085331 SCV000117468 not provided not provided no assertion provided not provided
Counsyl RCV000169568 SCV000221066 likely pathogenic Juvenile retinoschisis 2015-01-22 no assertion criteria provided literature only
Natera, Inc. RCV000169568 SCV002084716 pathogenic Juvenile retinoschisis 2020-12-27 no assertion criteria provided clinical testing

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