Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV000773039 | SCV000906421 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-12-05 | criteria provided, single submitter | clinical testing | This missense variant replaces tyrosine with cysteine at codon 366 of the MSH6 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with MSH6-related disorders in the literature. This variant has been identified in 1/31394 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |
Invitae | RCV001065372 | SCV001230328 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2022-10-12 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000773039 | SCV002734541 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-09-22 | criteria provided, single submitter | clinical testing | The p.Y366C variant (also known as c.1097A>G), located in coding exon 4 of the MSH6 gene, results from an A to G substitution at nucleotide position 1097. The tyrosine at codon 366 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Genome |
RCV001175269 | SCV001338868 | not provided | Lynch syndrome | no assertion provided | phenotyping only | Variant interpretted as Uncertain significance and reported on 03-18-2019 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. |