ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.2419dup (p.Glu807fs)

dbSNP: rs1553413784
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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 RCV000629823 SCV000750779 pathogenic Hereditary nonpolyposis colorectal neoplasms 2022-12-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 525661). This variant has not been reported in the literature in individuals affected with MSH6-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu807Glyfs*13) in the MSH6 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MSH6 are known to be pathogenic (PMID: 18269114, 24362816).
Ambry Genetics RCV001015482 SCV001176320 pathogenic Hereditary cancer-predisposing syndrome 2022-01-21 criteria provided, single submitter clinical testing The c.2419dupG pathogenic mutation, located in coding exon 4 of the MSH6 gene, results from a duplication of G at nucleotide position 2419, causing a translational frameshift with a predicted alternate stop codon (p.E807Gfs*13). 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. RCV003451487 SCV004185649 pathogenic Lynch syndrome 5 2023-08-17 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 RCV004568356 SCV005054887 likely pathogenic Endometrial carcinoma 2024-02-28 criteria provided, single submitter clinical testing

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