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
Invitae RCV001854492 SCV002237244 pathogenic PRPH2-Related Disorders 2021-08-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change replaces cysteine with arginine at codon 213 of the PRPH2 protein (p.Cys213Arg). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and arginine. This variant is not present in population databases (ExAC no frequency). 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. 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.
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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