Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000491109 | SCV000580196 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-02-25 | criteria provided, single submitter | clinical testing | The c.1794dupA pathogenic mutation, located in coding exon 4 of the MSH6 gene, results from a duplication of A at nucleotide position 1794, causing a translational frameshift with a predicted alternate stop codon (p.G599Rfs*8). 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. |
| Invitae | RCV000696635 | SCV000825203 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2022-03-05 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 428341). This premature translational stop signal has been observed in individual(s) with breast and ovarian cancers (PMID: 26270727). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gly599Argfs*8) 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). |
| Invitae | RCV000122953 | SCV000166213 | pathogenic | Lynch syndrome | 2014-06-11 | no assertion criteria provided | clinical testing | The interpretation for this sequence variant was made by Invitae based on the ACMG guidelines. A more detailed explanation of the interpretation for this specific variant is forthcoming. This ClinVar entry will be updated at that time. |