ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.623dup (p.Val209fs)

dbSNP: rs62641253
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Retina International RCV000084995 SCV000117131 not provided not provided no assertion provided not provided
Leiden Open Variation Database RCV000084995 SCV001744982 pathogenic not provided 2021-04-06 no assertion criteria provided curation Curator: Global Variome, with Curator vacancy. Submitter to LOVD: Manon Peeters.
PreventionGenetics, part of Exact Sciences RCV004724802 SCV005338441 pathogenic PRPH2-related disorder 2024-08-30 no assertion criteria provided clinical testing The PRPH2 c.623dupG variant is predicted to result in a frameshift and premature protein termination (p.Val209Argfs*9). This variant has been reported in the heterozygous state in individuals with presumably autosomal dominant retinal disease (referred to as Gly208insG, Kohl et al. 1997. PubMed ID: 9279751; Table S2, Peeters et al. 2021. PubMed ID: 34411390). This variant has not been reported in a large population database, indicating this variant is rare. Frameshift variants in PRPH2 are an established mechanism of disease. Given the evidence, we interpret this variant as pathogenic for autosomal dominant disease.

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