ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.547del (p.Gln183fs)

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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 RCV002349839 SCV002649852 pathogenic Hereditary cancer-predisposing syndrome 2019-01-21 criteria provided, single submitter clinical testing The c.547delC pathogenic mutation, located in coding exon 3 of the MSH2 gene, results from a deletion of one nucleotide at nucleotide position 547, causing a translational frameshift with a predicted alternate stop codon (p.Q183Sfs*31). 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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