ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.2584A>G (p.Lys862Glu)

dbSNP: rs1554017428
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520338 SCV000618587 uncertain significance not provided 2019-09-12 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System RCV000678375 SCV000804442 uncertain significance Cornelia de Lange syndrome 1 2017-08-28 criteria provided, single submitter provider interpretation This 5 year old male with global developmental delays, seizure disorder, and subcortical band heterotopia was found to carry a variant in the NIPBL gene. Inheritance is unknown as a paternal sample was unavailable. Clinical correlation is thought to be poor as the patient is non-dysmorphic and does not have limb defects. He is small for his age; he is below the 1st percentile for both height and weight. The variant is absent from population databases. It is a non-conservative substitution at a conserved position; in silico analysis is inconsistent in its predictions. Additionally, exome sequencing identified a pathogenic variant in PAFAH1B1.
Genome-Nilou Lab RCV000678375 SCV002055947 uncertain significance Cornelia de Lange syndrome 1 2021-07-15 criteria provided, single submitter clinical testing

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