ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.1281A>T (p.Gln427His)

gnomAD frequency: 0.00001  dbSNP: rs376889675
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001052482 SCV001216694 uncertain significance Gastrointestinal stromal tumor 2023-05-27 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 848672). 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. This variant has not been reported in the literature in individuals affected with KIT-related conditions. This variant is present in population databases (rs376889675, gnomAD 0.0009%). This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 427 of the KIT protein (p.Gln427His).
Ambry Genetics RCV003160409 SCV003858478 uncertain significance Hereditary cancer-predisposing syndrome 2022-11-20 criteria provided, single submitter clinical testing The p.Q427H variant (also known as c.1281A>T), located in coding exon 8 of the KIT gene, results from an A to T substitution at nucleotide position 1281. The glutamine at codon 427 is replaced by histidine, an amino acid with highly 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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