ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.708C>G (p.Tyr236Ter)

dbSNP: rs61755813
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001075315 SCV001240933 likely pathogenic Retinal dystrophy 2018-01-04 criteria provided, single submitter clinical testing
NEI Ophthalmic Genomics Laboratory, National Institutes of Health RCV001250333 SCV001424653 pathogenic Patterned dystrophy of the retinal pigment epithelium 2020-01-07 criteria provided, single submitter clinical testing The variant NM_000322.4:c.708C>G in the PRPH2 gene has been previously studied(PMIDs 25082885, 22863181). We found this variant in 3 patient(s) in a PRPH2 cohort study (Reeves et al. 2020). This variant is listed in dbSNP and/or HGMD (CM127071). It is absent in gnomAD browser. It is enriched in the PRPH2 disease cohort. We invoked ACMG criteria [PVS1, PS4, PM2] and classified NM_000322.4:c.708C>G in the PRPH2 gene as a Pathogenic mutation.
NEI Ophthalmic Genomics Laboratory, National Institutes of Health RCV001250334 SCV001424654 pathogenic Stargardt disease 2020-01-07 criteria provided, single submitter clinical testing The variant NM_000322.4:c.708C>G in the PRPH2 gene has been previously studied(PMIDs 25082885, 22863181). We found this variant in 3 patient(s) in a PRPH2 cohort study (Reeves et al. 2020). This variant is listed in dbSNP and/or HGMD (CM127071). It is absent in gnomAD browser. It is enriched in the PRPH2 disease cohort. We invoked ACMG criteria [PVS1, PS4, PM2] and classified NM_000322.4:c.708C>G in the PRPH2 gene as a Pathogenic mutation.
Labcorp Genetics (formerly Invitae), Labcorp RCV001386137 SCV001586266 pathogenic PRPH2-related disorder 2024-05-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr236*) 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 macular and/or pattern dystrophy (PMID: 22863181, 25082885). ClinVar contains an entry for this variant (Variation ID: 866925). For these reasons, this variant has been classified as Pathogenic.
Dept Of Ophthalmology, Nagoya University RCV001075315 SCV004707332 pathogenic Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Leiden Open Variation Database RCV001530324 SCV001745102 pathogenic not provided 2021-04-06 no assertion criteria provided curation Curator: Global Variome, with Curator vacancy. Submitters to LOVD: Manon Peeters, Yoshito Koyanagi.

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