ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.631_632insA (p.Phe211fs)

dbSNP: rs2152005352
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002568178 SCV002960783 pathogenic PRPH2-related disorder 2021-12-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe211Tyrfs*7) in the PRPH2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PRPH2 are known to be pathogenic (PMID: 8111389, 8485575, 8485576, 8675410, 16916875, 17504850, 25675413, 26061163, 27365499, 29555955). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1175265). This premature translational stop signal has been observed in individual(s) with retinitis pigmentosa (PMID: 31213501). This variant is not present in population databases (gnomAD no frequency).
Dept Of Ophthalmology, Nagoya University RCV003888298 SCV004707342 likely pathogenic Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Leiden Open Variation Database RCV001530318 SCV001745091 pathogenic not provided 2019-07-24 no assertion criteria provided curation Curator: Global Variome, with Curator vacancy. Submitter to LOVD: Yoshito Koyanagi.

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