ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.430A>G (p.Thr144Ala)

dbSNP: rs758120380
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000543092 SCV000630500 uncertain significance Gastrointestinal stromal tumor 2023-04-27 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: 458948). This variant has not been reported in the literature in individuals affected with KIT-related conditions. This variant is present in population databases (rs758120380, gnomAD 0.0009%). This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 144 of the KIT protein (p.Thr144Ala).
Ambry Genetics RCV004948400 SCV005608799 uncertain significance Hereditary cancer-predisposing syndrome 2024-10-19 criteria provided, single submitter clinical testing The p.T144A variant (also known as c.430A>G), located in coding exon 3 of the KIT gene, results from an A to G substitution at nucleotide position 430. The threonine at codon 144 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. Based on the available evidence, the clinical significance of this variant remains unclear.

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