ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.254CCA[1] (p.Thr86del)

dbSNP: rs1553408448
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000662815 SCV000785654 uncertain significance Lynch syndrome 5 2017-10-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001213139 SCV001384756 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2023-12-26 criteria provided, single submitter clinical testing This variant, c.257_259del, results in the deletion of 1 amino acid(s) of the MSH6 protein (p.Thr86del), but otherwise preserves the integrity of the reading frame. 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: 548802). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Myriad Genetics, Inc. RCV000662815 SCV004019218 uncertain significance Lynch syndrome 5 2023-03-30 criteria provided, single submitter clinical testing This variant is classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk.
Baylor Genetics RCV003465432 SCV004195809 uncertain significance Endometrial carcinoma 2023-05-01 criteria provided, single submitter clinical testing

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