ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.163del (p.Ser55fs)

dbSNP: rs1761917286
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NEI Ophthalmic Genomics Laboratory, National Institutes of Health RCV001250292 SCV001424605 pathogenic Stargardt disease 2020-01-07 criteria provided, single submitter clinical testing The variant NM_000322.4:c.163delT in the PRPH2 gene has been previously studied (PMID 17504850). We found this variant in 2 patient(s) in a PRPH2 cohort study (Reeves et al. 2020). This variant is listed in dbSNP and/or HGMD (CD075522). It is absent in gnomAD browser. It is enriched in the PRPH2 disease cohort. We invoked ACMG criteria [PVS1, PS4, PM2, PP1-M] and classified NM_000322.4:c.163delT in the PRPH2 gene as a Pathogenic mutation.
Labcorp Genetics (formerly Invitae), Labcorp RCV001381387 SCV001579763 pathogenic PRPH2-related disorder 2023-11-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser55Leufs*10) 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 multifocal pattern dystrophy (PMID: 17504850). This variant is also known as p.Asn54fs*4. ClinVar contains an entry for this variant (Variation ID: 973711). For these reasons, this variant has been classified as Pathogenic.
Leiden Open Variation Database RCV001530294 SCV001745057 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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