ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.637T>C (p.Cys213Arg)

dbSNP: rs61755802
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001854492 SCV002237244 pathogenic PRPH2-related disorder 2024-05-24 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 213 of the PRPH2 protein (p.Cys213Arg). This variant is present in population databases (rs61755802, gnomAD 0.0009%). This missense change has been observed in individual(s) with autosomal dominant pattern dystrophy and/or autosomal recessive Leber congenital amaurosis (PMID: 9443872, 23847139). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 98691). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt PRPH2 protein function with a positive predictive value of 95%. This variant disrupts the p.Cys213 amino acid residue in PRPH2. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 11934323, 21071739, 28559085). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Retina International RCV000085002 SCV000117138 not provided not provided no assertion provided not provided
OMIM RCV000149468 SCV000196112 pathogenic Patterned macular dystrophy 1 2013-10-01 no assertion criteria provided literature only
OMIM RCV000149469 SCV000196113 pathogenic Leber congenital amaurosis 18 2013-10-01 no assertion criteria provided literature only
Leiden Open Variation Database RCV000085002 SCV001745096 likely pathogenic not provided 2021-04-06 no assertion criteria provided curation Curator: Global Variome, with Curator vacancy. Submitter to LOVD: Manon Peeters.

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