Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002339395 | SCV002639340 | pathogenic | Hereditary cancer-predisposing syndrome | 2022-06-13 | criteria provided, single submitter | clinical testing | The c.473delA pathogenic mutation, located in coding exon 6 of the MLH1 gene, results from a deletion of one nucleotide at nucleotide position 473, causing a translational frameshift with a predicted alternate stop codon (p.N158Tfs*2). This variant has been reported in the germline of a Taiwanese Lynch syndrome family meeting Amsterdam II criteria (Tang R et al. Clin. Genet., 2009 Apr;75:334-45). 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. |
Ding PR Lab, |
RCV001093663 | SCV001250844 | pathogenic | Lynch syndrome 1 | no assertion criteria provided | clinical testing |