ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.644dup (p.Thr216fs)

dbSNP: rs1572719776
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000819777 SCV000960457 pathogenic Hereditary nonpolyposis colorectal neoplasms 2021-03-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with colorectal cancer (PMID: 20028993). ClinVar contains an entry for this variant (Variation ID: 662185). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Thr216Asnfs*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).
Myriad Genetics, Inc. RCV003453721 SCV004185613 pathogenic Lynch syndrome 5 2023-08-10 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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