ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1987G>T (p.Glu663Ter)

dbSNP: rs1554297061
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521070 SCV000618421 pathogenic not provided 2017-04-19 criteria provided, single submitter clinical testing This variant is denoted PMS2 c.1987G>T at the cDNA level and p.Glu663Ter (E663X) at the protein level. The substitution creates a nonsense variant, which changes a Glutamic Acid to a premature stop codon (GAA>TAA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Although this variant has not, to our knowledge, been reported in the literature, it is considered pathogenic.
Ambry Genetics RCV000574914 SCV000670862 pathogenic Hereditary cancer-predisposing syndrome 2021-02-15 criteria provided, single submitter clinical testing The p.E663* pathogenic mutation (also known as c.1987G>T), located in coding exon 11 of the PMS2 gene, results from a G to T substitution at nucleotide position 1987. 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.
Myriad Genetics, Inc. RCV003449484 SCV004187695 pathogenic Lynch syndrome 4 2023-09-21 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.

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