ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3154G>T (p.Glu1052Ter)

gnomAD frequency: 0.00001  dbSNP: rs765763906
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759860 SCV000889482 likely pathogenic not provided 2018-01-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002536576 SCV003240787 pathogenic Hereditary nonpolyposis colorectal neoplasms 2022-10-11 criteria provided, single submitter clinical testing 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). 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: 619874). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003461015 SCV004195713 likely pathogenic Endometrial carcinoma 2023-06-22 criteria provided, single submitter clinical testing

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