ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.86T>A (p.Val29Glu)

gnomAD frequency: 0.00001  dbSNP: rs864622699
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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 RCV000204661 SCV000261905 uncertain significance Gastrointestinal stromal tumor 2024-01-28 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 29 of the KIT protein (p.Val29Glu). This variant is present in population databases (no rsID available, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with KIT-related conditions. ClinVar contains an entry for this variant (Variation ID: 220935). 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 RCV002444831 SCV002682212 uncertain significance Hereditary cancer-predisposing syndrome 2024-09-09 criteria provided, single submitter clinical testing The p.V29E variant (also known as c.86T>A), located in coding exon 2 of the KIT gene, results from a T to A substitution at nucleotide position 86. The valine at codon 29 is replaced by glutamic acid, an amino acid with dissimilar properties. This amino acid position is not well 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 RCV004721298 SCV005326606 uncertain significance not provided 2024-03-05 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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