ClinVar Miner

Submissions for variant NM_000245.4(MET):c.2389G>A (p.Glu797Lys)

dbSNP: rs1307693651
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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 RCV002234732 SCV000941154 uncertain significance Renal cell carcinoma 2023-12-27 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 815 of the MET protein (p.Glu815Lys). This variant is present in population databases (no rsID available, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with MET-related conditions. ClinVar contains an entry for this variant (Variation ID: 646988). 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 with a negative predictive value of 80%. 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.
Ambry Genetics RCV001015563 SCV001176410 uncertain significance Hereditary cancer-predisposing syndrome 2019-01-30 criteria provided, single submitter clinical testing The p.E815K variant (also known as c.2443G>A), located in coding exon 10 of the MET gene, results from a G to A substitution at nucleotide position 2443. The glutamic acid at codon 815 is replaced by lysine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV003461129 SCV004192498 uncertain significance Autosomal recessive nonsyndromic hearing loss 97 2023-09-25 criteria provided, single submitter clinical testing

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