ClinVar Miner

Submissions for variant NM_001353108.3(CEP63):c.31C>T (p.Arg11Ter)

gnomAD frequency: 0.00007  dbSNP: rs763001827
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596453 SCV000708555 uncertain significance not provided 2017-05-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000622831 SCV000740957 pathogenic Inborn genetic diseases 2015-07-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000596453 SCV004508641 pathogenic not provided 2022-11-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 501990). This variant has not been reported in the literature in individuals affected with CEP63-related conditions. This variant is present in population databases (rs763001827, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Arg11*) in the CEP63 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CEP63 are known to be pathogenic (PMID: 21983783, 23936128, 26158450).

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