Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001202557 | SCV001373673 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-05-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003293994 | SCV003997400 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-03-26 | criteria provided, single submitter | clinical testing | The c.260+4G>A intronic variant results from a G to A substitution 4 nucleotides after coding exon 1 in the MSH6 gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Color Diagnostics, |
RCV003293994 | SCV004356783 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-06-21 | criteria provided, single submitter | clinical testing | This variant causes a G to A nucleotide substitution at the +4 position of intron 1 of the MSH6 gene. To our knowledge, functional studies have not been reported for this variant. Splice site prediction tools suggest that this variant may not have an impact on RNA splicing. This variant has not been reported in individuals affected with MSH6-related disorders in the literature. This variant has not been identified 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. |
All of Us Research Program, |
RCV004010621 | SCV004825218 | uncertain significance | Lynch syndrome | 2023-08-15 | criteria provided, single submitter | clinical testing | This variant causes a G to A nucleotide substitution at the +4 position of intron 1 of the MSH6 gene. To our knowledge, functional studies have not been reported for this variant. Splice site prediction tools suggest that this variant may not have an impact on RNA splicing. This variant has not been reported in individuals affected with MSH6-related disorders in the literature. This variant has not been identified 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. |