Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002410175 | SCV002713242 | pathogenic | Hereditary cancer-predisposing syndrome | 2017-07-13 | criteria provided, single submitter | clinical testing | The p.E604* pathogenic mutation (also known as c.1810G>T), located in coding exon 4 of the MSH6 gene, results from a G to T substitution at nucleotide position 1810. This changes the amino acid from a glutamic acid to a stop codon within coding exon 4. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |
Myriad Genetics, |
RCV003454289 | SCV004185874 | pathogenic | Lynch syndrome 5 | 2023-08-15 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation. |
Labcorp Genetics |
RCV003759698 | SCV004499819 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2023-02-23 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu604*) in the MSH6 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MSH6 are known to be pathogenic (PMID: 18269114, 24362816). 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: 1780582). For these reasons, this variant has been classified as Pathogenic. |