Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001026791 | SCV001189240 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-04-12 | criteria provided, single submitter | clinical testing | The p.Q259* variant (also known as c.775C>T), located in coding exon 7 of the MRE11A gene, results from a C to T substitution at nucleotide position 775. This changes the amino acid from a glutamine to a stop codon within coding exon 7. 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 | RCV003467691 | SCV004193895 | likely pathogenic | Ataxia-telangiectasia-like disorder 1 | 2022-02-08 | criteria provided, single submitter | clinical testing |