ClinVar Miner

Submissions for variant NM_000245.4(MET):c.143C>T (p.Ala48Val)

dbSNP: rs80256822
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000628790 SCV000749696 benign Renal cell carcinoma 2024-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002395652 SCV002702893 uncertain significance Hereditary cancer-predisposing syndrome 2023-06-19 criteria provided, single submitter clinical testing The p.A48V variant (also known as c.143C>T), located in coding exon 1 of the MET gene, results from a C to T substitution at nucleotide position 143. The alanine at codon 48 is replaced by valine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV003226958 SCV003923751 uncertain significance not provided 2023-06-07 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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