Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000075268 | SCV000106262 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation resulting in a stop codon |
Invitae | RCV000629762 | SCV000750718 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2023-02-05 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu53Argfs*26) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Lynch syndrome (PMID: 12658575). This variant is also known as 52insA. ClinVar contains an entry for this variant (Variation ID: 89794). For these reasons, this variant has been classified as Pathogenic. |
Ambry Genetics | RCV002399436 | SCV002708450 | pathogenic | Hereditary cancer-predisposing syndrome | 2015-02-09 | criteria provided, single submitter | clinical testing | The c.156dupA pathogenic mutation, located in coding exon 2 of the MLH1 gene, results from a duplication of A at position 156, causing a translational frameshift with a predicted alternate stop codon. 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, |
RCV003451036 | SCV004190037 | pathogenic | Colorectal cancer, hereditary nonpolyposis, type 2 | 2023-07-11 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |