ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.1A>T (p.Met1Leu)

dbSNP: rs1761921867
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002568885 SCV003439416 pathogenic PRPH2-related disorder 2022-07-21 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 autosomal dominant PRPH2-related conditions (PMID: 9338584, 25472526, 29555955; Invitae). ClinVar contains an entry for this variant (Variation ID: 1175236). For these reasons, this variant has been classified as Pathogenic.
Leiden Open Variation Database RCV001530268 SCV001745020 pathogenic 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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