ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.2410C>T (p.Arg804Trp)

gnomAD frequency: 0.00001  dbSNP: rs145602440
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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 RCV000528751 SCV000630470 uncertain significance Gastrointestinal stromal tumor 2023-12-11 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 804 of the KIT protein (p.Arg804Trp). This variant is present in population databases (rs145602440, gnomAD 0.006%). 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: 458919). 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 RCV002448641 SCV002732804 uncertain significance Hereditary cancer-predisposing syndrome 2023-03-14 criteria provided, single submitter clinical testing The p.R804W variant (also known as c.2410C>T), located in coding exon 17 of the KIT gene, results from a C to T substitution at nucleotide position 2410. The arginine at codon 804 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.
Baylor Genetics RCV000528751 SCV005059814 uncertain significance Gastrointestinal stromal tumor 2024-02-28 criteria provided, single submitter clinical testing

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