ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1269dup (p.His424fs)

dbSNP: rs63751667
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076084 SCV000107099 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation introducing a premature termination codon
Ambry Genetics RCV003298128 SCV004002486 pathogenic Hereditary cancer-predisposing syndrome 2023-05-30 criteria provided, single submitter clinical testing The c.1269dupA pathogenic mutation, located in coding exon 7 of the MSH2 gene, results from a duplication of A at nucleotide position 1269, causing a translational frameshift with a predicted alternate stop codon (p.H424Tfs*2). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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.
Myriad Genetics, Inc. RCV003452814 SCV004186841 pathogenic Lynch syndrome 1 2023-08-01 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Baylor Genetics RCV003452814 SCV004196901 pathogenic Lynch syndrome 1 2022-08-02 criteria provided, single submitter clinical testing

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