ClinVar Miner

Submissions for variant NM_033100.4(CDHR1):c.2470C>T (p.Gln824Ter)

gnomAD frequency: 0.00003  dbSNP: rs762298688
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000319081 SCV000332975 uncertain significance not provided 2015-07-10 criteria provided, single submitter clinical testing
Invitae RCV000319081 SCV002295279 uncertain significance not provided 2022-06-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln824*) in the CDHR1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 36 amino acid(s) of the CDHR1 protein. This variant is present in population databases (rs762298688, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with CDHR1-related conditions. ClinVar contains an entry for this variant (Variation ID: 281923). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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