Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000491765 | SCV000580258 | pathogenic | Hereditary cancer-predisposing syndrome | 2014-12-16 | criteria provided, single submitter | clinical testing | The c.2618_2619delGG pathogenic mutation, located in coding exon 4 of the MSH6 gene, results from a deletion of two nucleotides at nucleotide positions 2618 and 2619 causing a translational frameshift with a predicted alternate stop codon (p.G873Dfs*7). Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294). |
Myriad Genetics, |
RCV003449314 | SCV004185878 | pathogenic | Lynch syndrome 5 | 2023-08-17 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |