ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.700A>G (p.Thr234Ala)

dbSNP: rs1577958731
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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 RCV000816299 SCV000956800 uncertain significance Gastrointestinal stromal tumor 2023-08-23 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. 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. ClinVar contains an entry for this variant (Variation ID: 659312). This variant has not been reported in the literature in individuals affected with KIT-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 234 of the KIT protein (p.Thr234Ala).
Ambry Genetics RCV002363132 SCV002666784 uncertain significance Hereditary cancer-predisposing syndrome 2024-09-16 criteria provided, single submitter clinical testing The p.T234A variant (also known as c.700A>G), located in coding exon 4 of the KIT gene, results from an A to G substitution at nucleotide position 700. The threonine at codon 234 is replaced by alanine, an amino acid with similar properties. This amino acid position is conserved. 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 RCV004768693 SCV005376497 uncertain significance not provided 2023-10-18 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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