ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1352_1353del (p.Gln451fs)

dbSNP: rs63750957
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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) RCV000076131 SCV000107146 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation introducing premature termination codon
Ambry Genetics RCV000491723 SCV000580541 pathogenic Hereditary cancer-predisposing syndrome 2016-10-24 criteria provided, single submitter clinical testing The c.1352_1353delAG pathogenic mutation, located in coding exon 8 of the MSH2 gene, results from a deletion of 2 nucleotides between positions 1352 and 1353, causing a translational frameshift with a predicted alternate stop codon. This mutation has been reported in one Lynch syndrome family that met Bethesda criteria (Syngal S et al. JAMA. 1999 Jul 21;282(3):247-53). In addition to the clinical data presented in the literature, and since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).
Color Diagnostics, LLC DBA Color Health RCV000491723 SCV000905227 pathogenic Hereditary cancer-predisposing syndrome 2020-04-29 criteria provided, single submitter clinical testing This variant deletes 2 nucleotides in exon 8 of the MSH2 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, functional studies have not been reported for this variant. This variant has been reported in at least one individual affected with Lynch Syndrome (PMID: 12067992). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of MSH2 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
Myriad Genetics, Inc. RCV003452824 SCV004188006 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.

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