Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001024236 | SCV001186218 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-10-11 | criteria provided, single submitter | clinical testing | The p.W184* pathogenic mutation (also known as c.552G>A), located in coding exon 5 of the POT1 gene, results from a G to A substitution at nucleotide position 552. This changes the amino acid from a tryptophan to a stop codon within coding exon 5. 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. |