ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.1153A>G (p.Thr385Ala)

gnomAD frequency: 0.00001  dbSNP: rs776734905
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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 RCV000699913 SCV000828644 uncertain significance Gastrointestinal stromal tumor 2023-03-13 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: 577221). This variant has not been reported in the literature in individuals affected with KIT-related conditions. This variant is present in population databases (rs776734905, gnomAD 0.002%). This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 385 of the KIT protein (p.Thr385Ala).
Ambry Genetics RCV002343520 SCV002622186 uncertain significance Hereditary cancer-predisposing syndrome 2022-08-15 criteria provided, single submitter clinical testing The p.T385A variant (also known as c.1153A>G), located in coding exon 7 of the KIT gene, results from an A to G substitution at nucleotide position 1153. The threonine at codon 385 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.

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