Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000482046 | SCV000565210 | uncertain significance | not provided | 2019-04-18 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV000553070 | SCV000624940 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-09-23 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001183214 | SCV001348881 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-12-05 | criteria provided, single submitter | clinical testing | This missense variant replaces histidine with arginine at codon 130 of the MSH6 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, 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 1/31406 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. |
Ambry Genetics | RCV001183214 | SCV002624387 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-02-10 | criteria provided, single submitter | clinical testing | The p.H130R variant (also known as c.389A>G), located in coding exon 2 of the MSH6 gene, results from an A to G substitution at nucleotide position 389. The histidine at codon 130 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 deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
All of Us Research Program, |
RCV004002246 | SCV004826699 | uncertain significance | Lynch syndrome | 2023-12-01 | criteria provided, single submitter | clinical testing |