ClinVar Miner

Submissions for variant NM_006579.3(EBP):c.328C>T (p.Arg110Ter)

dbSNP: rs587783613
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145937 SCV000193075 pathogenic Chondrodysplasia punctata 2 X-linked dominant 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV001857506 SCV002159877 pathogenic not provided 2021-06-01 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 chondrodysplasia punctata (PMID: 10710233, 17625999). This variant is also known as R110X. ClinVar contains an entry for this variant (Variation ID: 158545). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg110*) in the EBP gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EBP are known to be pathogenic (PMID: 10391218).

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