ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.2010del (p.Gly670_Leu671insTer)

dbSNP: rs1060502918
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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 RCV000462642 SCV000551174 pathogenic Hereditary nonpolyposis colorectal neoplasms 2023-12-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu671*) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MSH6-related conditions. ClinVar contains an entry for this variant (Variation ID: 410470). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000490988 SCV000580153 pathogenic Hereditary cancer-predisposing syndrome 2023-03-24 criteria provided, single submitter clinical testing The c.2010delG pathogenic mutation, located in coding exon 4 of the MSH6 gene, results from a deletion of one nucleotide at nucleotide position 2010, causing a translational frameshift with a predicted alternate stop codon (p.L671*). 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. RCV003449148 SCV004188187 pathogenic Lynch syndrome 5 2023-08-16 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 RCV004568051 SCV005054982 likely pathogenic Endometrial carcinoma 2023-12-29 criteria provided, single submitter clinical testing

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