Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001010337 | SCV001170516 | pathogenic | Hereditary cancer-predisposing syndrome | 2018-08-31 | criteria provided, single submitter | clinical testing | The p.Q404* pathogenic mutation (also known as c.1210C>T), located in coding exon 10 of the MRE11A gene, results from a C to T substitution at nucleotide position 1210. This changes the amino acid from a glutamine to a stop codon within coding exon 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. |
Baylor Genetics | RCV003461315 | SCV004193891 | likely pathogenic | Ataxia-telangiectasia-like disorder 1 | 2022-05-11 | criteria provided, single submitter | clinical testing |