ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.7068A>G (p.Lys2356=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Human Genetics, Hannover Medical School RCV003128172 SCV003804320 uncertain significance Cornelia de Lange syndrome 1 2023-02-22 criteria provided, single submitter clinical testing This variant does not change the protein sequence (samesense). An in silico analysis of the variant showed no evidence of a change in the splicing pattern. The variant is currently not known in the ClinVar and LOVD variant databases or in the literature. In the population database gnomAD, a general allele frequency of 0.0004% is reported for this variant (gnomAD; ALL). Too few data are currently available for a conclusive assessment regarding clinical relevance.

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