ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3699del (p.Glu1234fs)

dbSNP: rs1558392033
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000686029 SCV000813532 pathogenic Hereditary nonpolyposis colorectal neoplasms 2022-10-27 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: 566264). 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.Glu1234Asnfs*6) 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).
Color Diagnostics, LLC DBA Color Health RCV000776597 SCV000912213 pathogenic Hereditary cancer-predisposing syndrome 2020-04-01 criteria provided, single submitter clinical testing This variant deletes 1 nucleotide in exon 8 of the MSH6 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, this variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of MSH6 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
Ambry Genetics RCV000776597 SCV002621867 pathogenic Hereditary cancer-predisposing syndrome 2020-08-05 criteria provided, single submitter clinical testing The c.3699delA pathogenic mutation, located in coding exon 8 of the MSH6 gene, results from a deletion of one nucleotide at nucleotide position 3699, causing a translational frameshift with a predicted alternate stop codon (p.E1234Nfs*6). 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. RCV003453406 SCV004185689 pathogenic Lynch syndrome 5 2023-08-25 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 RCV003459664 SCV004198107 likely pathogenic Endometrial carcinoma 2022-12-08 criteria provided, single submitter clinical testing

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