Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000708891 | SCV000837919 | uncertain significance | Lynch syndrome | 2018-07-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001861936 | SCV002202710 | uncertain significance | Hereditary nonpolyposis colorectal neoplasms | 2023-11-04 | criteria provided, single submitter | clinical testing | This variant, c.3613_3615dup, results in the insertion of 1 amino acid(s) of the MSH6 protein (p.Thr1205dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MSH6-related conditions. ClinVar contains an entry for this variant (Variation ID: 584622). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Ambry Genetics | RCV003353003 | SCV004057482 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-07-13 | criteria provided, single submitter | clinical testing | The c.3613_3615dupACA variant (also known as p.T1205dup), located in coding exon 7 of the MSH6 gene, results from an in-frame duplication of ACA at nucleotide positions 3613 to 3615. This results in the duplication of an extra threonine residue between codons 1205 and 1206. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |