ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.394del (p.Gln132fs)

dbSNP: rs769723975
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001061370 SCV001226110 pathogenic PRPH2-related disorder 2024-01-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln132Lysfs*7) 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 present in population databases (rs769723975, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with autosomal dominant retinitis pigmentosa (PMID: 22581970). ClinVar contains an entry for this variant (Variation ID: 684461). For these reasons, this variant has been classified as Pathogenic.
NEI Ophthalmic Genomics Laboratory, National Institutes of Health RCV001250304 SCV001424617 pathogenic Stargardt disease 2020-01-07 criteria provided, single submitter clinical testing The variant NM_000322.4:c.394delC in the PRPH2 gene has been previously studied (PMID 22581970). 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 (rs769723975,CD1211758). It is present in gnomAD browser (AF 0.00000406). This variant is not already listed in ClinVar. It is enriched in the PRPH2 disease cohort. We invoked ACMG criteria [PVS1, PS4, PM2] and classified NM_000322.4:c.394delC in the PRPH2 gene as a Pathogenic mutation.
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004818062 SCV005068912 pathogenic Retinal dystrophy 2023-01-01 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000844928 SCV000986744 not provided Retinitis pigmentosa no assertion provided phenotyping only Variant interpretted as Pathogenic and reported most recently on 06-25-2018 by Lab or GTR ID 239772. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Leiden Open Variation Database RCV001530283 SCV001745041 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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