ClinVar Miner

Submissions for variant NM_000245.4(MET):c.1813C>T (p.Leu605Phe)

dbSNP: rs774945178
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001043383 SCV001207127 uncertain significance Renal cell carcinoma 2023-05-11 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt MET protein function. ClinVar contains an entry for this variant (Variation ID: 841207). This variant has not been reported in the literature in individuals affected with MET-related conditions. This variant is present in population databases (rs774945178, gnomAD 0.0009%). This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 605 of the MET protein (p.Leu605Phe).
Ambry Genetics RCV003307830 SCV003999630 uncertain significance Hereditary cancer-predisposing syndrome 2023-05-20 criteria provided, single submitter clinical testing The p.L605F variant (also known as c.1813C>T), located in coding exon 5 of the MET gene, results from a C to T substitution at nucleotide position 1813. The leucine at codon 605 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is not 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.

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