ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.914G>A (p.Gly305Asp)

dbSNP: rs61748432
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001857417 SCV002245723 pathogenic PRPH2-related disorder 2024-01-17 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 305 of the PRPH2 protein (p.Gly305Asp). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with autosomal dominant retinal disease (PMID: 9338584; Invitae). ClinVar contains an entry for this variant (Variation ID: 98718). 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 80%. For these reasons, this variant has been classified as Pathogenic.
Mendelics RCV002247484 SCV002519225 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel RCV003324505 SCV004030278 likely pathogenic Choroidal dystrophy, central areolar 2 2023-07-24 criteria provided, single submitter research Clinical significance based on ACMG v2.0
Retina International RCV000085031 SCV000117167 not provided not provided no assertion provided not provided
Leiden Open Variation Database RCV000085031 SCV001745123 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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