ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.642C>A (p.Cys214Ter)

dbSNP: rs1388865786
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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 RCV001250310 SCV001424623 likely pathogenic Stargardt disease 2020-01-07 criteria provided, single submitter clinical testing The variant NM_000322.4:c.642C>A in the PRPH2 gene has not been reported to our knowledge . We found this variant in 1 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 not enriched in the PRPH2 disease cohort. We invoked ACMG criteria [PVS1, PM2] and classified NM_000322.4:c.642C>A in the PRPH2 gene as a Likely Pathogenic mutation.
Invitae RCV001387192 SCV001587755 pathogenic PRPH2-Related Disorders 2024-01-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys214*) 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 autosomal dominant PRPH2-related conditions (PMID: 32037395, 32531846). ClinVar contains an entry for this variant (Variation ID: 973714). For these reasons, this variant has been classified as Pathogenic.
Leiden Open Variation Database RCV001530363 SCV001745167 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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