ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.2687_2690del (p.Lys896fs)

dbSNP: rs1553414010
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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 RCV000508138 SCV000601540 likely pathogenic not provided 2017-03-08 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV003449450 SCV004187100 pathogenic Lynch syndrome 5 2023-08-17 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Labcorp Genetics (formerly Invitae), Labcorp RCV005091129 SCV005764951 pathogenic Hereditary nonpolyposis colorectal neoplasms 2024-08-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys896Ilefs*9) 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: 439204). For these reasons, this variant has been classified as Pathogenic.

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