ClinVar Miner

Submissions for variant NM_000245.4(MET):c.1789G>C (p.Asp597His)

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 RCV001878169 SCV002126355 uncertain significance Renal cell carcinoma 2023-11-29 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with histidine, which is basic and polar, at codon 597 of the MET protein (p.Asp597His). 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: 1356925). 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 RCV002397790 SCV002711460 uncertain significance Hereditary cancer-predisposing syndrome 2021-05-14 criteria provided, single submitter clinical testing The p.D597H variant (also known as c.1789G>C), located in coding exon 5 of the MET gene, results from a G to C substitution at nucleotide position 1789. The aspartic acid at codon 597 is replaced by histidine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. 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 RCV004571439 SCV005057876 uncertain significance Autosomal recessive nonsyndromic hearing loss 97 2024-02-03 criteria provided, single submitter clinical testing

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