ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.113del (p.Gly38fs)

dbSNP: rs61755769
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000084953 SCV001167810 pathogenic not provided 2022-06-20 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 12566026, 32531846, 32037395)
Blueprint Genetics RCV001074733 SCV001240326 pathogenic Retinal dystrophy 2019-05-07 criteria provided, single submitter clinical testing
NEI Ophthalmic Genomics Laboratory, National Institutes of Health RCV001250275 SCV001424587 pathogenic Stargardt disease 2020-01-07 criteria provided, single submitter clinical testing The variant NM_000322.4:c.113delG in the PRPH2 gene has been previously studied (PMID 12566026). We found this variant in 1 patient(s) in a PRPH2 cohort study (Reeves et al. 2020). This variant is listed in dbSNP and/or HGMD (rs61755769,CD030391). It is absent in gnomAD browser. It is not enriched in the PRPH2 disease cohort. We invoked ACMG criteria [PVS1, PM2, PP1-S] and classified NM_000322.4:c.113delG in the PRPH2 gene as a Pathogenic mutation.
Invitae RCV001851844 SCV002238779 pathogenic PRPH2-related disorder 2023-11-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly38Aspfs*4) 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 adult-onset foveomacular dystrophy (PMID: 12566026). This variant is also known as c.112delG. ClinVar contains an entry for this variant (Variation ID: 13177). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV002508122 SCV000034310 pathogenic Vitelliform macular dystrophy 3 2003-02-01 no assertion criteria provided literature only
Retina International RCV000084953 SCV000117089 not provided not provided no assertion provided not provided
Leiden Open Variation Database RCV000084953 SCV001745051 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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