ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.1A>G (p.Met1Val)

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 RCV001202664 SCV001373787 likely pathogenic PRPH2-related disorder 2022-01-27 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. ClinVar contains an entry for this variant (Variation ID: 934303). Disruption of the initiator codon has been observed in individuals with clinical features of autosomal dominant PRPH2-related conditions (PMID: 9338584, 25472526, 29555955). 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.
Dept Of Ophthalmology, Nagoya University RCV003890347 SCV004707370 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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