ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.3068A>G (p.Lys1023Arg)

dbSNP: rs1580399961
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine RCV000790517 SCV000929848 uncertain significance Cornelia de Lange syndrome 1 criteria provided, single submitter research
Ambry Genetics RCV002442611 SCV002753709 uncertain significance Inborn genetic diseases 2019-05-12 criteria provided, single submitter clinical testing The p.K1023R variant (also known as c.3068A>G), located in coding exon 9 of the NIPBL gene, results from an A to G substitution at nucleotide position 3068. The lysine at codon 1023 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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