ClinVar Miner

Submissions for variant NM_002439.5(MSH3):c.1992del (p.Gln664fs)

gnomAD frequency: 0.00001  dbSNP: rs1328242717
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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 RCV001390790 SCV001592636 pathogenic not provided 2023-02-23 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1076787). 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.Gln664Hisfs*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).
Ambry Genetics RCV002420868 SCV002718249 pathogenic Hereditary cancer-predisposing syndrome 2019-10-02 criteria provided, single submitter clinical testing The c.1992delG pathogenic mutation, located in coding exon 14 of the MSH3 gene, results from a deletion of one nucleotide at nucleotide position 1992, causing a translational frameshift with a predicted alternate stop codon (p.Q664Hfs*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. RCV003458700 SCV004189226 pathogenic Familial adenomatous polyposis 4 2023-08-30 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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