ClinVar Miner

Submissions for variant NM_000245.4(MET):c.2086del (p.Thr696fs)

dbSNP: rs1794245712
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001232563 SCV001405125 uncertain significance Renal cell carcinoma 2019-08-03 criteria provided, single submitter clinical testing 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. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in MET cause disease. This variant has not been reported in the literature in individuals with MET-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Thr696Hisfs*4) in the MET gene. It is expected to result in an absent or disrupted protein product.

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