Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor- |
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. |