ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.652T>C (p.Ser218Pro)

dbSNP: rs1582764878
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001869193 SCV002268373 pathogenic PRPH2-related disorder 2023-12-22 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 218 of the PRPH2 protein (p.Ser218Pro). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with autosomal dominant retinitis pigmentosa and pattern dystrophy (PMID: 30718709, 34240658; Invitae). ClinVar contains an entry for this variant (Variation ID: 636194). 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%. For these reasons, this variant has been classified as Pathogenic.
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV000787870 SCV000926886 uncertain significance Retinitis pigmentosa 2018-04-01 no assertion criteria provided research
Leiden Open Variation Database RCV001530370 SCV001745176 uncertain significance 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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