ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.2T>C (p.Met1Thr)

dbSNP: rs121918565
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002513033 SCV003439415 pathogenic PRPH2-related disorder 2023-02-19 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the PRPH2 mRNA. The next in-frame methionine is located at codon 23. This variant is not present in population databases (gnomAD no frequency). Disruption of the initiator codon has been observed in individuals with clinical features of autosomal dominant PRPH2-related conditions (PMID: 9338584, 25472526, 29555955; Invitae). This variant is also known as M1T. ClinVar contains an entry for this variant (Variation ID: 13175). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV002508120 SCV000034308 pathogenic Vitelliform macular dystrophy 3 1997-01-01 no assertion criteria provided literature only
Retina International RCV000084961 SCV000117097 not provided not provided no assertion provided not provided
Leiden Open Variation Database RCV000084961 SCV001745021 pathogenic not provided 2021-04-06 no assertion criteria provided curation Curator: Global Variome, with Curator vacancy. Submitters to LOVD: LOVD, Manon Peeters.

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