ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.2068A>G (p.Ile690Val)

gnomAD frequency: 0.00001  dbSNP: rs924104591
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000538990 SCV000630454 uncertain significance Gastrointestinal stromal tumor 2022-10-25 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 690 of the KIT protein (p.Ile690Val). This variant is present in population databases (no rsID available, gnomAD 0.0009%). 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: 458903). 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. 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 RCV001014301 SCV001174995 uncertain significance Hereditary cancer-predisposing syndrome 2024-01-31 criteria provided, single submitter clinical testing The p.I690V variant (also known as c.2068A>G), located in coding exon 14 of the KIT gene, results from an A to G substitution at nucleotide position 2068. The isoleucine at codon 690 is replaced by valine, an amino acid with highly 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 RCV000538990 SCV005059859 uncertain significance Gastrointestinal stromal tumor 2023-12-08 criteria provided, single submitter clinical testing
GeneDx RCV004797829 SCV005420201 uncertain significance not provided 2024-05-31 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 35884448)

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