ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1201_1202dup (p.Leu401fs)

dbSNP: rs869312768
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
University of Washington Department of Laboratory Medicine, University of Washington RCV000210102 SCV000266081 pathogenic Lynch syndrome 2015-11-20 criteria provided, single submitter clinical testing
Clinical Genetics and Genomics, Karolinska University Hospital RCV001269797 SCV001450066 pathogenic not provided 2020-01-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002347819 SCV002648038 pathogenic Hereditary cancer-predisposing syndrome 2017-11-07 criteria provided, single submitter clinical testing The c.1201_1202dupTT pathogenic mutation, located in coding exon 7 of the MSH2 gene, results from a duplication of TT at nucleotide position 1201, causing a translational frameshift with a predicted alternate stop codon (p.L401Ffs*12). 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. RCV003454552 SCV004187043 pathogenic Lynch syndrome 1 2023-07-31 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Invitae RCV003593937 SCV004324862 pathogenic Hereditary nonpolyposis colorectal neoplasms 2023-09-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu401Phefs*12) in the MSH2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MSH2-related conditions. ClinVar contains an entry for this variant (Variation ID: 224533). For these reasons, this variant has been classified as Pathogenic.

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