ClinVar Miner

Submissions for variant NM_033100.4(CDHR1):c.1381C>T (p.Gln461Ter)

dbSNP: rs1589306127
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268819 SCV001448010 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001268819 SCV002241482 pathogenic not provided 2020-10-30 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with autosomal recessive inherited retinal dystrophy (PMID: 23044944). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 812261). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln461*) 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).
Sharon lab, Hadassah-Hebrew University Medical Center RCV002267755 SCV001160966 pathogenic Cone-rod dystrophy 2019-06-23 no assertion criteria provided research

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