ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.638G>A (p.Cys213Tyr)

gnomAD frequency: 0.00001  dbSNP: rs61755803
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001052017 SCV001216205 pathogenic PRPH2-related disorder 2023-06-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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. ClinVar contains an entry for this variant (Variation ID: 98692). This missense change has been observed in individual(s) with autosomal dominant pattern dystrophy (PMID: 11934323, 28559085). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 213 of the PRPH2 protein (p.Cys213Tyr).
Blueprint Genetics RCV001074371 SCV001239948 pathogenic Retinal dystrophy 2019-07-29 criteria provided, single submitter clinical testing
NEI Ophthalmic Genomics Laboratory, National Institutes of Health RCV001250308 SCV001424621 likely pathogenic Stargardt disease 2020-01-07 criteria provided, single submitter clinical testing The variant NM_000322.4:c.638G>A in the PRPH2 gene has been previously studied(PMIDs 1193423, 28559085 ). We found this variant in 1 patient(s) in a PRPH2 cohort study (Reeves et al. 2020). This variant is listed in dbSNP and/or HGMD (rs61755803,CM025888). It is absent in gnomAD browser. It is not enriched in the PRPH2 disease cohort. We invoked ACMG criteria [PM1, PM2, PM5, PP3] and classified NM_000322.4:c.638G>A in the PRPH2 gene as a Likely Pathogenic mutation.
Retina International RCV000085003 SCV000117139 not provided not provided no assertion provided not provided
Leiden Open Variation Database RCV000085003 SCV001745163 pathogenic not provided 2021-04-06 no assertion criteria provided curation Curator: Global Variome, with Curator vacancy. Submitters to LOVD: LOVD, Manon Peeters.
Genomics England Pilot Project, Genomics England RCV001542667 SCV001760181 likely pathogenic Patterned macular dystrophy 1 no assertion criteria provided clinical testing

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