ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1710T>A (p.Tyr570Ter)

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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 RCV002398898 SCV002714590 pathogenic Hereditary cancer-predisposing syndrome 2020-07-02 criteria provided, single submitter clinical testing The p.Y570* pathogenic mutation (also known as c.1710T>A), located in coding exon 11 of the MSH2 gene, results from a T to A substitution at nucleotide position 1710. This changes the amino acid from a tyrosine to a stop codon within coding exon 11. This alteration was detected in the tumor of a patient with colon cancer that showed loss of MSH2/MSH6 on IHC and was MSI-H (Jansen AM et al. PLoS ONE, 2016 Jun;11:e0157381). 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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