ClinVar Miner

Submissions for variant NM_000245.4(MET):c.1789G>T (p.Asp597Tyr)

dbSNP: rs769073123
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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 RCV001304416 SCV001493696 uncertain significance Renal cell carcinoma 2024-10-15 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with tyrosine, which is neutral and polar, at codon 597 of the MET protein (p.Asp597Tyr). This variant is not present in population databases (gnomAD no frequency). 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: 1007265). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) 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 RCV002411968 SCV002716095 uncertain significance Hereditary cancer-predisposing syndrome 2024-03-02 criteria provided, single submitter clinical testing The p.D597Y variant (also known as c.1789G>T), located in coding exon 5 of the MET gene, results from a G to T substitution at nucleotide position 1789. The aspartic acid at codon 597 is replaced by tyrosine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV003469529 SCV004192543 uncertain significance Autosomal recessive nonsyndromic hearing loss 97 2023-08-02 criteria provided, single submitter clinical testing

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