ClinVar Miner

Submissions for variant NM_000245.4(MET):c.1067del (p.Pro356fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002408191 SCV002722590 uncertain significance Hereditary cancer-predisposing syndrome 2022-01-07 criteria provided, single submitter clinical testing The c.1067delC variant, located in coding exon 1 of the MET gene, results from a deletion of one nucleotide at nucleotide position 1067, causing a translational frameshift with a predicted alternate stop codon (p.P356Qfs*28). This alteration is expected to result in premature protein truncation or nonsense-mediated mRNA decay. However, loss of function of MET has not been clearly established as a mechanism of disease. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005032265 SCV005673756 uncertain significance Osteofibrous dysplasia; Papillary renal cell carcinoma type 1; Hepatocellular carcinoma; Autosomal recessive nonsyndromic hearing loss 97; Arthrogryposis, distal, IIa 11 2024-01-17 criteria provided, single submitter clinical testing

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