ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.610T>C (p.Tyr204His)

dbSNP: rs997283737
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001074660 SCV001240252 uncertain significance Retinal dystrophy 2019-02-22 criteria provided, single submitter clinical testing
NEI Ophthalmic Genomics Laboratory, National Institutes of Health RCV001250280 SCV001424592 uncertain significance Patterned dystrophy of the retinal pigment epithelium 2020-01-07 criteria provided, single submitter clinical testing The variant NM_000322.4:c.610T>C in the PRPH2 gene has not been reported to our knowledge . 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 (rs997283737). It is absent in gnomAD browser. It is not enriched in the PRPH2 disease cohort. We invoked ACMG criteria [PM1, PM2, PP3] and classified NM_000322.4:c.610T>C in the PRPH2 gene as a Variant of Uncertain Significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV002557916 SCV002963191 uncertain significance PRPH2-related disorder 2023-11-04 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 204 of the PRPH2 protein (p.Tyr204His). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of PRPH2-related conditions (PMID: 32531846). ClinVar contains an entry for this variant (Variation ID: 866564). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on PRPH2 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Leiden Open Variation Database RCV001530235 SCV001744974 uncertain significance not provided 2021-04-06 no assertion criteria provided curation Curator: Global Variome, with Curator vacancy. Submitters to LOVD: LOVD, Manon Peeters.

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