Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000229125 | SCV000284020 | pathogenic | Lynch syndrome | 2015-12-19 | criteria provided, single submitter | clinical testing | This sequence change deletes 1 nucleotide from exon 13 of the MLH1 mRNA (c.1441delA), causing a frameshift at codon 481. This creates a premature translational stop signal (p.Met481Trpfs*10) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating variants in MLH1 are known to be pathogenic (PMID: 15713769, 24362816). For these reasons, this variant has been classified as Pathogenic. |
Invitae | RCV001390761 | SCV001592596 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2015-12-19 | criteria provided, single submitter | clinical testing | While this particular variant has not been reported in the literature, truncating variants in MLH1 are known to be pathogenic (PMID: 15713769, 24362816). For these reasons, this variant has been classified as Pathogenic. This sequence change deletes 1 nucleotide from exon 13 of the MLH1 mRNA (c.1441delA), causing a frameshift at codon 481. This creates a premature translational stop signal (p.Met481Trpfs*10) and is expected to result in an absent or disrupted protein product. |
Ambry Genetics | RCV002390600 | SCV002697870 | pathogenic | Hereditary cancer-predisposing syndrome | 2022-08-15 | criteria provided, single submitter | clinical testing | The c.1441delA pathogenic mutation, located in coding exon 13 of the MLH1 gene, results from a deletion of one nucleotide at nucleotide position 1441, causing a translational frameshift with a predicted alternate stop codon (p.M481Wfs*10). 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. |