ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.136C>T (p.Arg46Ter)

gnomAD frequency: 0.00001  dbSNP: rs61755771
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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987699 SCV001137118 likely pathogenic Patterned macular dystrophy 1 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001039794 SCV001203341 pathogenic PRPH2-related disorder 2024-11-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg46*) 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 (rs61755771, gnomAD 0.009%). This premature translational stop signal has been observed in individuals with autosomal dominant retinitis pigmentosa (adRP), macular dystrophy, or cone-rod dystrophy (PMID: 7880786, 8111389, 25447119, 28559085, 29555955). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 13179). For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001075450 SCV001241073 pathogenic Retinal dystrophy 2018-09-21 criteria provided, single submitter clinical testing
NEI Ophthalmic Genomics Laboratory, National Institutes of Health RCV001250276 SCV001424588 pathogenic Stargardt disease 2020-01-07 criteria provided, single submitter clinical testing The variant NM_000322.4:c.136C>T in the PRPH2 gene has been previously studied (PMIDs 8111389, 20213611, 23105016, 25412400, 25412400, 28559085, 29555955, 29343940). 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 (rs61755771,CM930635). It is present in gnomAD browser (AF 0.0000163). It is enriched in the PRPH2 disease cohort. We invoked ACMG criteria [PVS1, PS4, PM2, PP1-M, PP5] and classified NM_000322.4:c.136C>T in the PRPH2 gene as a Pathogenic mutation.
NEI Ophthalmic Genomics Laboratory, National Institutes of Health RCV001250291 SCV001424604 pathogenic Patterned dystrophy of the retinal pigment epithelium 2020-01-07 criteria provided, single submitter clinical testing The variant NM_000322.4:c.136C>T in the PRPH2 gene has been previously studied (PMIDs 8111389, 20213611, 23105016, 25412400, 25412400, 28559085, 29555955, 29343940). 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 (rs61755771,CM930635). It is present in gnomAD browser (AF 0.0000163). It is enriched in the PRPH2 disease cohort. We invoked ACMG criteria [PVS1, PS4, PM2, PP1-M, PP5] and classified NM_000322.4:c.136C>T in the PRPH2 gene as a Pathogenic mutation.
Institute of Human Genetics, University of Leipzig Medical Center RCV000987699 SCV001441038 pathogenic Patterned macular dystrophy 1 2023-03-06 criteria provided, single submitter clinical testing _x000D_ Criteria applied: PVS1, PS4
GeneDx RCV000084955 SCV001783412 pathogenic not provided 2021-05-05 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 32660024, 28559085, 29343940, 29555955, 25447119, 7880786, 11139241, 8111389, 26061163, 25412400, 7825692, 20213611, 28129423, 32531846, 23105016)
MGZ Medical Genetics Center RCV000987699 SCV002580655 pathogenic Patterned macular dystrophy 1 2022-01-25 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV001075450 SCV004707364 pathogenic Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003987319 SCV004804689 pathogenic Choroidal dystrophy, central areolar 2 2024-03-17 criteria provided, single submitter research
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV001075450 SCV005072312 pathogenic Retinal dystrophy 2023-01-01 criteria provided, single submitter clinical testing
OMIM RCV000014067 SCV000034314 pathogenic Retinitis pigmentosa 7 1995-01-01 no assertion criteria provided literature only
Retina International RCV000084955 SCV000117091 not provided not provided no assertion provided not provided
Leiden Open Variation Database RCV000084955 SCV001745055 pathogenic not provided 2021-04-29 no assertion criteria provided curation Curator: Global Variome, with Curator vacancy. Submitters to LOVD: Julia Lopez, LOVD, Manon Peeters, Yoshito Koyanagi. Comment: Variant observed de novo.
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana RCV001250276 SCV002761252 pathogenic Stargardt disease 2022-12-13 no assertion criteria provided research

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