ClinVar Miner

Submissions for variant NM_002439.5(MSH3):c.2876_2877del (p.Thr959fs)

dbSNP: rs1580091512
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000813391 SCV000953750 pathogenic not provided 2023-09-12 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with MSH3-related conditions. This sequence change creates a premature translational stop signal (p.Thr959Serfs*17) 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). ClinVar contains an entry for this variant (Variation ID: 656877). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV002440772 SCV002745940 pathogenic Hereditary cancer-predisposing syndrome 2021-03-22 criteria provided, single submitter clinical testing The c.2876_2877delCA pathogenic mutation, located in coding exon 21 of the MSH3 gene, results from a deletion of two nucleotides at nucleotide positions 2876 to 2877, causing a translational frameshift with a predicted alternate stop codon (p.T959Sfs*17). 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. RCV003458543 SCV004189099 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.

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