Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001248577 | SCV001422075 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2023-06-04 | 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: 972525). This variant is also known as c.643_648dupA. This premature translational stop signal has been observed in individual(s) with colorectal cancer (PMID: 21286823). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln197Thrfs*7) in the MLH1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MLH1 are known to be pathogenic (PMID: 15713769, 24362816). |
Ambry Genetics | RCV002357055 | SCV002653596 | pathogenic | Hereditary cancer-predisposing syndrome | 2022-02-15 | criteria provided, single submitter | clinical testing | The c.588dupA pathogenic mutation, located in coding exon 7 of the MLH1 gene, results from a duplication of A at nucleotide position 588, causing a translational frameshift with a predicted alternate stop codon (p.Q197Tfs*7). 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, |
RCV003449802 | SCV004186531 | pathogenic | Colorectal cancer, hereditary nonpolyposis, type 2 | 2023-07-17 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |