ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.6038G>A (p.Ser2013Asn) (rs1554030233)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000544465 SCV000657499 likely pathogenic Cornelia de Lange syndrome 1 2017-08-20 criteria provided, single submitter clinical testing This sequence change replaces serine with asparagine at codon 2013 of the NIPBL protein (p.Ser2013Asn). The serine residue is moderately conserved and there is a small physicochemical difference between serine and asparagine. This variant is not present in population databases (ExAC no frequency). Family studies have indicated that this variant was not present in the parents of an individual with Cornelia de Lange syndrome, which suggests that it was de novo in that affected individual (Invitae). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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