ClinVar Miner

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

dbSNP: rs121918565
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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 RCV002513033 SCV003439415 pathogenic PRPH2-related disorder 2023-02-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 13175). This variant is also known as M1T. 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 not present in population databases (gnomAD no frequency). This sequence change affects the initiator methionine of the PRPH2 mRNA. The next in-frame methionine is located at codon 23.
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004814901 SCV005070494 likely pathogenic Retinal dystrophy 2019-01-01 criteria provided, single submitter clinical testing
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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