ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.7697A>G (p.Lys2566Arg)

dbSNP: rs1216631170
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV000991289 SCV001055691 likely benign De Lange syndrome 2019-12-12 criteria provided, single submitter clinical testing The c.7697A>G NIPBL-variant (p.Lys2566Arg) is found at a relatively low frequency (gnomAD & ExAC population frequency <0.001 %) within the general population but has a pathogenic computational verdict due to 7 pathogenic predictions from DANN, EIGEN, FATHMM-MKL, M-CAP, MVP, MutationTaster and PrimateAI vs 3 benign predictions from DEOGEN2, MutationAssessor, and SIFT. The nucleotide and amino acid are highly conserved. In our facility, the variant was found in an affected patient with mental retardation, epilepsy, and obesity. Segregation analysis revealed the same variant in the unaffected, healthy brother. Thus, we consider this variant a rare benign polymorphism.

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