Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001388048 | SCV001588869 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2016-02-13 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, truncating variants in PMS2 are known to be pathogenic (PMID: 21376568, 24362816). This sequence change creates a premature translational stop signal at codon 531 (p.Glu531*) of the PMS2 gene. It is expected to result in an absent or disrupted protein product. |
Ambry Genetics | RCV002399814 | SCV002708984 | pathogenic | Hereditary cancer-predisposing syndrome | 2018-05-02 | criteria provided, single submitter | clinical testing | The p.E531* pathogenic mutation (also known as c.1591G>T), located in coding exon 11 of the PMS2 gene, results from a G to T substitution at nucleotide position 1591. This changes the amino acid from a glutamic acid to a stop codon within coding exon 11. 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. |