ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.1376T>G (p.Ile459Arg)

gnomAD frequency: 0.00004  dbSNP: rs150837768
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000394159 SCV000457269 uncertain significance De Lange syndrome 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002520371 SCV003725808 likely benign Inborn genetic diseases 2022-02-09 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV003497844 SCV004267633 benign Cornelia de Lange syndrome 1 2023-10-13 criteria provided, single submitter clinical testing

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