ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3151_3152dup (p.Val1051_Glu1052insTer)

dbSNP: rs1175196087
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001018833 SCV001180115 pathogenic Hereditary cancer-predisposing syndrome 2018-09-29 criteria provided, single submitter clinical testing The c.3151_3152dupGT pathogenic mutation, located in coding exon 4 of the MSH6 gene, results from a duplication of GT at nucleotide position 3151, causing a predicted alternate stop codon (p.E1052*). 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001860929 SCV002203245 pathogenic Hereditary nonpolyposis colorectal neoplasms 2023-08-30 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: 823006). 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.Glu1052*) 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).
Myriad Genetics, Inc. RCV003455102 SCV004185722 pathogenic Lynch syndrome 5 2023-08-22 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 RCV003461374 SCV004196383 likely pathogenic Endometrial carcinoma 2021-02-09 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001355629 SCV001550565 uncertain significance Carcinoma of colon no assertion criteria provided clinical testing

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