ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.1403C>T (p.Pro468Leu)

dbSNP: rs200518498
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000543221 SCV000630417 uncertain significance Gastrointestinal stromal tumor 2023-11-24 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 468 of the KIT protein (p.Pro468Leu). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 41598). 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. 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 RCV002390137 SCV002702447 uncertain significance Hereditary cancer-predisposing syndrome 2020-09-11 criteria provided, single submitter clinical testing The p.P468L variant (also known as c.1403C>T), located in coding exon 9 of the KIT gene, results from a C to T substitution at nucleotide position 1403. The proline at codon 468 is replaced by leucine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. 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.
Baylor Genetics RCV000543221 SCV005059823 uncertain significance Gastrointestinal stromal tumor 2024-02-18 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000034503 SCV000043280 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.

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