ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.960del (p.Thr321fs)

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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 RCV002374362 SCV002692824 pathogenic Hereditary cancer-predisposing syndrome 2021-01-21 criteria provided, single submitter clinical testing The c.960delC pathogenic mutation, located in coding exon 6 of the MSH2 gene, results from a deletion of one nucleotide at nucleotide position 960, causing a translational frameshift with a predicted alternate stop codon (p.T321Lfs*10). 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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