ClinVar Miner

Submissions for variant NM_002439.5(MSH3):c.1877_1878del (p.Leu625_Cys626insTer)

dbSNP: rs1260807695
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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 RCV001389506 SCV001590898 pathogenic not provided 2023-11-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys626*) 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 present in population databases (no rsID available, gnomAD 0.007%). 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: 1075809). For these reasons, this variant has been classified as Pathogenic.
Myriad Genetics, Inc. RCV003458698 SCV004189084 pathogenic Familial adenomatous polyposis 4 2023-08-30 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.
Baylor Genetics RCV004570973 SCV005054732 likely pathogenic Endometrial carcinoma 2024-01-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV004651634 SCV005141975 pathogenic Hereditary cancer-predisposing syndrome 2024-03-26 criteria provided, single submitter clinical testing The c.1877_1878delGT variant, located in coding exon 13 of the MSH3 gene, results from a deletion of two nucleotides at nucleotide positions 1877 to 1878, causing a translational frameshift with a predicted alternate stop codon (p.C626*). 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.

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