ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.340C>A (p.Pro114Thr)

dbSNP: rs772836939
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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 RCV001340509 SCV001534325 uncertain significance Gastrointestinal stromal tumor 2023-12-16 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 114 of the KIT protein (p.Pro114Thr). This variant is not present in population databases (gnomAD no frequency). 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: 1037368). 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 disruptive. 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 RCV002456479 SCV002616507 uncertain significance Hereditary cancer-predisposing syndrome 2022-04-24 criteria provided, single submitter clinical testing The p.P114T variant (also known as c.340C>A), located in coding exon 3 of the KIT gene, results from a C to A substitution at nucleotide position 340. The proline at codon 114 is replaced by threonine, an amino acid with highly similar properties. This amino acid position is conserved. 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.
GeneDx RCV003227027 SCV003923568 uncertain significance not provided 2022-11-02 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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