ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.5690A>G (p.Asn1897Ser)

gnomAD frequency: 0.00009  dbSNP: rs190086412
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146649 SCV000193959 likely benign not specified 2013-02-08 criteria provided, single submitter clinical testing
GeneDx RCV001582612 SCV001820810 likely benign not provided 2021-06-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001849985 SCV002248685 uncertain significance Cornelia de Lange syndrome 1 2023-10-06 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 1897 of the NIPBL protein (p.Asn1897Ser). This variant is present in population databases (rs190086412, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with NIPBL-related conditions. ClinVar contains an entry for this variant (Variation ID: 159155). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt NIPBL protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV001849985 SCV005670776 likely benign Cornelia de Lange syndrome 1 2024-04-11 criteria provided, single submitter clinical testing

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