ClinVar Miner

Submissions for variant NM_006265.3(RAD21):c.943_946del (p.Glu315fs)

dbSNP: rs2130463115
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001543705 SCV002216280 pathogenic Cornelia de Lange syndrome 4 2021-09-15 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: 1185049). This premature translational stop signal has been observed in individual(s) with Cornelia de Lange syndrome (PMID: 30716475, 32193685). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu315Glnfs*9) in the RAD21 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RAD21 are known to be pathogenic (PMID: 22633399, 24378232, 27620904, 27882533).
OMIM RCV001543705 SCV001762406 pathogenic Cornelia de Lange syndrome 4 2021-07-29 no assertion criteria provided literature only

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