ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.441del (p.Gly148fs)

dbSNP: rs61755784
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NEI Ophthalmic Genomics Laboratory, National Institutes of Health RCV001250322 SCV001424642 pathogenic Stargardt disease 2020-01-07 criteria provided, single submitter clinical testing The variant NM_000322.4:c.441delT in the PRPH2 gene has been previously studied(PMIDs 10627133, 22334370, 29555955). 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 (rs61755784,CD972425). It is present in gnomAD browser (AF 0.00000406). It is not enriched in the PRPH2 disease cohort. We invoked ACMG criteria [PVS1, PM2, PP1] and classified NM_000322.4:c.441delT in the PRPH2 gene as a Pathogenic mutation.
Invitae RCV001854487 SCV002240329 pathogenic PRPH2-Related Disorders 2023-08-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly148Alafs*5) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 98668). This variant is also known as p.P147fs. This premature translational stop signal has been observed in individuals with PRPH2-related conditions (PMID: 10627133, 17504850, 22334370, 29555955). This variant is present in population databases (rs61755784, gnomAD 0.01%).
Retina International RCV000084972 SCV000117108 not provided not provided no assertion provided not provided
Sharon lab, Hadassah-Hebrew University Medical Center RCV001003148 SCV001161217 pathogenic maculopathy 2019-06-23 no assertion criteria provided research
Leiden Open Variation Database RCV000084972 SCV001745133 pathogenic not provided 2021-04-06 no assertion criteria provided curation Curator: Global Variome, with Curator vacancy. Submitters to LOVD: Global Variome, with Curator vacancy, Kornelia Neveling, LOVD, Manon Peeters.

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