ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.410G>A (p.Gly137Asp)

dbSNP: rs527236097
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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 RCV001074625 SCV001240217 likely pathogenic Retinal dystrophy 2019-01-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001388979 SCV001590174 pathogenic PRPH2-related disorder 2021-11-27 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: 143069). This missense change has been observed in individuals with autosomal dominant retinitis pigmentosa (PMID: 18310263, 30217183; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 137 of the PRPH2 protein (p.Gly137Asp).
Department of Ophthalmology and Visual Sciences Kyoto University RCV000132578 SCV000172521 pathogenic Retinitis pigmentosa no assertion criteria provided not provided Converted during submission to Pathogenic.
Leiden Open Variation Database RCV001530286 SCV001745044 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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