ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.310_313del (p.Ile104fs)

dbSNP: rs1761913253
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001232081 SCV001404626 pathogenic PRPH2-related disorder 2022-08-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 958838). This premature translational stop signal has been observed in individual(s) with PRPH2-related conditions (PMID: 26024099, 29555955; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ile104Valfs*34) 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).
NEI Ophthalmic Genomics Laboratory, National Institutes of Health RCV001250298 SCV001424611 pathogenic Patterned dystrophy of the retinal pigment epithelium 2020-01-07 criteria provided, single submitter clinical testing The variant NM_000322.4:c.310_313del in the PRPH2 gene has been previously studied (PMID 25082885). We found this variant in 2 patient(s) in a PRPH2 cohort study (Reeves et al. 2020). This variant is not listed in dbSNP and/or HGMD. 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.310_313del in the PRPH2 gene as a Pathogenic mutation.
NEI Ophthalmic Genomics Laboratory, National Institutes of Health RCV001250299 SCV001424612 pathogenic Stargardt disease 2020-01-07 criteria provided, single submitter clinical testing The variant NM_000322.4:c.310_313del in the PRPH2 gene has been previously studied (PMID 25082885). We found this variant in 2 patient(s) in a PRPH2 cohort study (Reeves et al. 2020). This variant is not listed in dbSNP and/or HGMD. 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.310_313del in the PRPH2 gene as a Pathogenic mutation.
Leiden Open Variation Database RCV001530221 SCV001744945 pathogenic not provided 2021-04-06 no assertion criteria provided curation Curator: Global Variome, with Curator vacancy. Submitters to LOVD: LOVD, Manon Peeters.

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