ClinVar Miner

Submissions for variant NM_000245.4(MET):c.3152T>C (p.Val1051Ala)

gnomAD frequency: 0.00001  dbSNP: rs1319458719
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001019212 SCV001180541 uncertain significance Hereditary cancer-predisposing syndrome 2023-09-12 criteria provided, single submitter clinical testing The p.V1069A variant (also known as c.3206T>C), located in coding exon 14 of the MET gene, results from a T to C substitution at nucleotide position 3206. The valine at codon 1069 is replaced by alanine, an amino acid with similar properties. This amino acid position is highly 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001043802 SCV001207567 uncertain significance Renal cell carcinoma 2023-11-24 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 1069 of the MET protein (p.Val1069Ala). 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: 823187). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University RCV003153888 SCV003843441 benign Ovarian cancer 2022-01-01 criteria provided, single submitter clinical testing

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