ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.106C>A (p.Pro36Thr)

dbSNP: rs781633384
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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 RCV001301325 SCV001490490 uncertain significance Gastrointestinal stromal tumor 2022-10-26 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1004598). This variant has not been reported in the literature in individuals affected with KIT-related conditions. This variant is present in population databases (rs781633384, gnomAD 0.0009%). This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 36 of the KIT protein (p.Pro36Thr).
Ambry Genetics RCV003166695 SCV003869075 uncertain significance Hereditary cancer-predisposing syndrome 2023-02-12 criteria provided, single submitter clinical testing The p.P36T variant (also known as c.106C>A), located in coding exon 2 of the KIT gene, results from a C to A substitution at nucleotide position 106. The proline at codon 36 is replaced by threonine, 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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