ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3170T>A (p.Leu1057Ter)

dbSNP: rs778741297
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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 RCV001941822 SCV002230093 pathogenic Hereditary nonpolyposis colorectal neoplasms 2022-07-11 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: 1454345). 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.Leu1057*) 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. RCV003453860 SCV004187090 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 RCV003471154 SCV004196379 likely pathogenic Endometrial carcinoma 2021-04-05 criteria provided, single submitter clinical testing

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