ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.578_579del (p.Lys193fs)

dbSNP: rs62645929
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001037210 SCV001200611 pathogenic PRPH2-related disorder 2023-02-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys193Argfs*24) 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, 22863181, 25675413, 26061163, 27365499, 29555955, 33546218). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with autosomal dominant retinal degeneration (PMID: 8675410). This variant is also known as K193del. ClinVar contains an entry for this variant (Variation ID: 98680). For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001074811 SCV001240409 pathogenic Retinal dystrophy 2019-07-11 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV001074811 SCV005071959 pathogenic Retinal dystrophy 2022-01-01 criteria provided, single submitter clinical testing
Retina International RCV000084989 SCV000117125 not provided not provided no assertion provided not provided
Leiden Open Variation Database RCV000084989 SCV001745078 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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