ClinVar Miner

Submissions for variant NM_000245.4(MET):c.448C>T (p.His150Tyr)

gnomAD frequency: 0.00001  dbSNP: rs1436957498
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001022565 SCV001184319 uncertain significance Hereditary cancer-predisposing syndrome 2023-01-30 criteria provided, single submitter clinical testing The p.H150Y variant (also known as c.448C>T), located in coding exon 1 of the MET gene, results from a C to T substitution at nucleotide position 448. The histidine at codon 150 is replaced by tyrosine, an amino acid with similar properties. This amino acid position is poorly 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001055680 SCV001220080 uncertain significance Renal cell carcinoma 2022-01-17 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 824933). This variant has not been reported in the literature in individuals affected with MET-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.004%). This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 150 of the MET protein (p.His150Tyr).

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