ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1585G>T (p.Glu529Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002398311 SCV002705978 pathogenic Hereditary cancer-predisposing syndrome 2021-02-05 criteria provided, single submitter clinical testing The p.E529* pathogenic mutation (also known as c.1585G>T), located in coding exon 10 of the MSH2 gene, results from a G to T substitution at nucleotide position 1585. This changes the amino acid from a glutamic acid to a stop codon within coding exon 10. This alteration was identified in 1/198 Chinese endometrial cancer patients and the tumor demonstrated loss of MSH2 and MSH6 on IHC (Tian W et al. Int J Cancer, 2019 09;145:1290-1298). In addition to the clinical data presented in the literature, 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.

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