ClinVar Miner

Submissions for variant NM_000245.4(MET):c.1812_1814del (p.Leu605del)

dbSNP: rs1060503535
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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 RCV002230649 SCV000553302 uncertain significance Renal cell carcinoma 2016-08-18 criteria provided, single submitter clinical testing This sequence change deletes 3 nucleotides from exon 6 of the MET mRNA (c.1812_1814delCCT). This leads to the deletion of 1 amino acid residue in the MET protein (p.Leu605del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a MET-related disease. In summary, this variant is a novel in-frame deletion with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. Experimental studies addressing the potential impact of this in-frame deletion on MET protein function have not been reported.

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