ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.655C>T (p.Pro219Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002569611 SCV002929777 uncertain significance PRPH2-related disorder 2020-03-11 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has been observed in individual(s) affected with clinical features of retinitis pigmentosa (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with serine at codon 219 of the PRPH2 protein (p.Pro219Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine.
Dept Of Ophthalmology, Nagoya University RCV003889115 SCV004707336 likely pathogenic Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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