ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.62G>A (p.Trp21Ter)

dbSNP: rs2152011135
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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 RCV001999832 SCV002233570 pathogenic PRPH2-related disorder 2021-03-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This nonsense change has been observed in individual(s) with multifocal pattern dystrophy (PMID: 17504850). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp21*) 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).
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004816818 SCV005072339 pathogenic Retinal dystrophy 2018-01-01 no assertion criteria provided clinical testing

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