ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3518dup (p.Phe1174fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002856964 SCV003222847 pathogenic Hereditary nonpolyposis colorectal neoplasms 2023-04-22 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: 2017704). 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.Phe1174Valfs*3) 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).
Baylor Genetics RCV003464614 SCV004198124 likely pathogenic Endometrial carcinoma 2022-10-17 criteria provided, single submitter clinical testing

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