ClinVar Miner

Submissions for variant NM_002439.5(MSH3):c.302_306del (p.Val101fs)

dbSNP: rs1749288569
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001222156 SCV001394243 pathogenic not provided 2025-01-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val101Glufs*10) in the MSH3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MSH3 are known to be pathogenic (PMID: 27476653, 37402566). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MSH3-related conditions. ClinVar contains an entry for this variant (Variation ID: 950444). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV002436860 SCV002753074 pathogenic Hereditary cancer-predisposing syndrome 2021-02-09 criteria provided, single submitter clinical testing The c.302_306delTAAAG pathogenic mutation, located in coding exon 2 of the MSH3 gene, results from a deletion of 5 nucleotides at nucleotide positions 302 to 306, causing a translational frameshift with a predicted alternate stop codon (p.V101Efs*10). 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. RCV003458647 SCV004189201 pathogenic Familial adenomatous polyposis 4 2023-08-29 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.