ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.612C>A (p.Tyr204Ter)

dbSNP: rs1554269081
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NEI Ophthalmic Genomics Laboratory, National Institutes of Health RCV001250281 SCV001424593 pathogenic Patterned dystrophy of the retinal pigment epithelium 2020-01-07 criteria provided, single submitter clinical testing The variant NM_000322.4:c.612C>A in the PRPH2 gene has not been reported to our knowledge. We found this variant in 4 patient(s) in a PRPH2 cohort study (Reeves et al. 2020). This variant is listed in dbSNP and/or HGMD (CM183758). It is absent in gnomAD browser. It is enriched in the PRPH2 disease cohort. We invoked ACMG criteria [PVS1, PS4, PM2] and classified NM_000322.4:c.612C>A in the PRPH2 gene as a Pathogenic mutation.
NEI Ophthalmic Genomics Laboratory, National Institutes of Health RCV001250282 SCV001424594 pathogenic Vitelliform macular dystrophy 2 2020-01-07 criteria provided, single submitter clinical testing The variant NM_000322.4:c.612C>A in the PRPH2 gene has not been reported to our knowledge. We found this variant in 4 patient(s) in a PRPH2 cohort study (Reeves et al. 2020). This variant is listed in dbSNP and/or HGMD (CM183758). It is absent in gnomAD browser. It is enriched in the PRPH2 disease cohort. We invoked ACMG criteria [PVS1, PS4, PM2] and classified NM_000322.4:c.612C>A in the PRPH2 gene as a Pathogenic mutation.
NEI Ophthalmic Genomics Laboratory, National Institutes of Health RCV001250373 SCV001424706 pathogenic Stargardt disease 2020-01-07 criteria provided, single submitter clinical testing The variant NM_000322.4:c.612C>A in the PRPH2 gene has not been reported to our knowledge. We found this variant in 4 patient(s) in a PRPH2 cohort study (Reeves et al. 2020). This variant is listed in dbSNP and/or HGMD (CM183758). It is absent in gnomAD browser. It is enriched in the PRPH2 disease cohort. We invoked ACMG criteria [PVS1, PS4, PM2] and classified NM_000322.4:c.612C>A in the PRPH2 gene as a Pathogenic mutation.
Labcorp Genetics (formerly Invitae), Labcorp RCV001879779 SCV002125599 pathogenic PRPH2-related disorder 2022-12-17 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with PRPH2-related conditions (PMID: 32531846). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 973708). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr204*) 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).

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