ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.675T>A (p.Tyr225Ter)

dbSNP: rs1800114066
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NEI Ophthalmic Genomics Laboratory, National Institutes of Health RCV001250314 SCV001424634 likely pathogenic Retinitis pigmentosa 2020-01-07 criteria provided, single submitter clinical testing The variant NM_000322.4:c.675T>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.675T>A in the PRPH2 gene as a Likely Pathogenic mutation.

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