Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
University of Washington Department of Laboratory Medicine, |
RCV000758609 | SCV000887364 | likely benign | Lynch syndrome | 2018-05-01 | criteria provided, single submitter | clinical testing | MSH6 NM_000179.2:c.1207C>A has a 2.4% probability of pathogenicity based on combining prior probability from public data with a likelihood ratio of 0.16 to 1, generated from evidence of seeing this as a somatic mutation in a tumor with loss of heterozygosity at the MSH6 locus. See Shirts et al 2018, PMID 29887214. |
Ambry Genetics | RCV002343610 | SCV002647845 | uncertain significance | Hereditary cancer-predisposing syndrome | 2017-08-08 | criteria provided, single submitter | clinical testing | The p.L403I variant (also known as c.1207C>A), located in coding exon 4 of the MSH6 gene, results from a C to A substitution at nucleotide position 1207. The leucine at codon 403 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. In addition, the CoDP in silico tool predicts this alteration to have a minor impact on molecular function, with a score of 0.008 (Terui H et al. J. Biomed. Sci. 2013 Apr;20:25). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |