ClinVar Miner

Submissions for variant NM_033100.4(CDHR1):c.1527T>G (p.Tyr509Ter)

dbSNP: rs1477733493
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001857214 SCV002241485 pathogenic not provided 2022-07-15 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 438117). This premature translational stop signal has been observed in individual(s) with retinitis pigmentosa (PMID: 28041643). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Tyr509*) in the CDHR1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CDHR1 are known to be pathogenic (PMID: 23044944, 23591405, 26103963, 26261414). For these reasons, this variant has been classified as Pathogenic.
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504623 SCV000599035 likely pathogenic Retinitis pigmentosa 2015-01-01 no assertion criteria provided research

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