ClinVar Miner

Submissions for variant NM_002439.5(MSH3):c.2695_2696del (p.Met899fs)

gnomAD frequency: 0.00002  dbSNP: rs1204002507
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000799885 SCV000939568 pathogenic not provided 2023-11-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Met899Glyfs*48) 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: 645737). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV002458454 SCV002739927 pathogenic Hereditary cancer-predisposing syndrome 2023-10-05 criteria provided, single submitter clinical testing The c.2695_2696delAT pathogenic mutation, located in coding exon 20 of the MSH3 gene, results from a deletion of two nucleotides at nucleotide positions 2695 to 2696, causing a translational frameshift with a predicted alternate stop codon (p.M899Gfs*48). 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. RCV003458528 SCV004189068 pathogenic Familial adenomatous polyposis 4 2023-08-31 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 RCV003461119 SCV004195164 likely pathogenic Endometrial carcinoma 2023-06-26 criteria provided, single submitter clinical testing

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