ClinVar Miner

Submissions for variant NM_000245.4(MET):c.629del (p.Pro210fs)

dbSNP: rs1554378645
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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 RCV002231674 SCV000623453 uncertain significance Renal cell carcinoma 2021-05-19 criteria provided, single submitter clinical testing The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in MET cause disease. Therefore, this variant has been classified as a Variant of Uncertain Significance. This variant is not present in population databases (ExAC no frequency). While this particular variant has not been reported in the literature, truncating variants in MET are not necessarily pathogenic (PMID: 9140397), and the clinical significance of this variant is uncertain at this time. This sequence change deletes 1 nucleotide from exon 2 of the MET mRNA (c.629delC), causing a frameshift at codon 210. This creates a premature translational stop signal (p.Pro210Hisfs*7) and is expected to result in an absent or disrupted protein product.

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