Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001014344 | SCV001175041 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-05-15 | criteria provided, single submitter | clinical testing | The c.2077delG pathogenic mutation, located in coding exon 18 of the MLH1 gene, results from a deletion of one nucleotide at nucleotide position 2077, causing a translational frameshift with a predicted alternate stop codon (p.E693Rfs*90). This alteration is expected to result in loss of function by premature protein truncation. As such, this alteration is interpreted as a disease-causing mutation. |