Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001019064 | SCV001180373 | pathogenic | Hereditary cancer-predisposing syndrome | 2018-06-28 | criteria provided, single submitter | clinical testing | The p.W308* pathogenic mutation (also known as c.923G>A), located in coding exon 7 of the ATM gene, results from a G to A substitution at nucleotide position 923. This changes the amino acid from a tryptophan 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. |
Center for Genomic Medicine, |
RCV003321777 | SCV004027143 | likely pathogenic | not provided | 2023-08-15 | criteria provided, single submitter | clinical testing |