ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.330del (p.Ile111fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002870716 SCV003221390 pathogenic PRPH2-related disorder 2022-07-19 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with PRPH2-related conditions. This sequence change creates a premature translational stop signal (p.Ile111Serfs*28) 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).

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