ClinVar Miner

Submissions for variant NM_000245.4(MET):c.3030T>A (p.Asp1010Glu)

gnomAD frequency: 0.00001  dbSNP: rs565938550
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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 RCV000198464 SCV000254682 uncertain significance Renal cell carcinoma 2025-02-02 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 1028 of the MET protein (p.Asp1028Glu). This variant is present in population databases (rs565938550, gnomAD 0.0009%). 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: 216504). 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.
Ambry Genetics RCV001018533 SCV001179784 uncertain significance Hereditary cancer-predisposing syndrome 2023-11-27 criteria provided, single submitter clinical testing The p.D1028E variant (also known as c.3084T>A), located in coding exon 14 of the MET gene, results from a T to A substitution at nucleotide position 3084. The aspartic acid at codon 1028 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is highly 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.
GeneDx RCV003332141 SCV004039850 uncertain significance not provided 2024-12-03 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.

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