ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1435_1436del (p.Leu478_Ser479insTer)

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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 RCV002392156 SCV002701379 pathogenic Hereditary cancer-predisposing syndrome 2020-04-03 criteria provided, single submitter clinical testing The c.1435_1436delAG pathogenic mutation, located in coding exon 9 of the MSH2 gene, results from a deletion of two nucleotides at nucleotide positions 1435 to 1436, causing a translational frameshift with a predicted alternate stop codon (p.S479*). 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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