ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1202_1255del (p.Leu401_Gln419delinsTer)

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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 RCV002349806 SCV002648165 pathogenic Hereditary cancer-predisposing syndrome 2021-07-04 criteria provided, single submitter clinical testing The c.1202_1255del54 pathogenic mutation (also known as p.L401*) is located in coding exon 7 of the MSH2 gene. This pathogenic mutation results from an in-frame TACAAGATTGTTACCGACTCTATCAGGGTATAAATCAACTACCTAATGTTATAC deletion at nucleotide positions 1202 to 1255. This results in an immediate stop codon at amino acid position 401. 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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