ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.6359T>G (p.Leu2120Ter)

dbSNP: rs2149732594
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001872180 SCV002124268 pathogenic Cornelia de Lange syndrome 1 2021-03-25 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with clinical features of Cornelia de Lange syndrome (Invitae). This sequence change creates a premature translational stop signal (p.Leu2120*) in the NIPBL gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NIPBL are known to be pathogenic (PMID: 15318302, 19763162, 23505322, 29995837).

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