ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.952G>T (p.Glu318Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002374249 SCV002686783 pathogenic Hereditary cancer-predisposing syndrome 2021-09-20 criteria provided, single submitter clinical testing The p.E318* pathogenic mutation (also known as c.952G>T), located in coding exon 6 of the MSH2 gene, results from a G to T substitution at nucleotide position 952. This changes the amino acid from a glutamic acid to a stop codon within coding exon 6. This variant has been reported in an individual with MSI-H colorectal cancer that exhibited loss of MSH2 protein on immunohistochemistry (Kovac M et al. Fam Cancer, 2011 Sep;10:605-16). 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.
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV002467459 SCV002762821 pathogenic Lynch syndrome 1 2022-12-09 criteria provided, single submitter research PVS1, PS4_SUP, PM2_SUP

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