ClinVar Miner

Submissions for variant NM_002439.5(MSH3):c.704_705del (p.Gln235fs)

dbSNP: rs1749674216
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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 RCV001217302 SCV001389136 pathogenic not provided 2021-11-02 criteria provided, single submitter clinical testing 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: 946435). For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln235Leufs*20) 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).
Myriad Genetics, Inc. RCV004792808 SCV005403829 pathogenic Familial adenomatous polyposis 4 2024-07-10 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Ambry Genetics RCV004944891 SCV005448245 pathogenic Hereditary cancer-predisposing syndrome 2024-09-11 criteria provided, single submitter clinical testing The c.704_705delAA pathogenic mutation, located in coding exon 4 of the MSH3 gene, results from a deletion of two nucleotides at nucleotide positions 704 to 705, causing a translational frameshift with a predicted alternate stop codon (p.Q235Lfs*20). 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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