ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.4439T>G (p.Met1480Arg)

dbSNP: rs587783948
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146609 SCV000193910 likely pathogenic Cornelia de Lange syndrome 1 2013-02-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000146609 SCV000819271 uncertain significance Cornelia de Lange syndrome 1 2018-01-07 criteria provided, single submitter clinical testing This sequence change replaces methionine with arginine at codon 1480 of the NIPBL protein (p.Met1480Arg). The methionine residue is moderately conserved and there is a moderate physicochemical difference between methionine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with NIPBL-related disease. ClinVar contains an entry for this variant (Variation ID: 159116). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.
Genome-Nilou Lab RCV000146609 SCV002054191 uncertain significance Cornelia de Lange syndrome 1 2021-07-15 criteria provided, single submitter clinical testing

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