ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.7727A>G (p.Tyr2576Cys)

dbSNP: rs80358351
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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 RCV000146732 SCV000194050 likely benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV002513928 SCV002986892 uncertain significance Cornelia de Lange syndrome 1 2023-12-11 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 2576 of the NIPBL protein (p.Tyr2576Cys). This variant is not present in population databases (gnomAD no frequency). 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: 99941). 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 with a positive predictive value of 95%. 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.

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