ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.2801A>G (p.His934Arg)

gnomAD frequency: 0.00002  dbSNP: rs762406098
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000477548 SCV000550051 uncertain significance Gastrointestinal stromal tumor 2024-01-21 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 934 of the KIT protein (p.His934Arg). This variant is present in population databases (rs762406098, gnomAD 0.004%). 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: 409717). 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 RCV002436437 SCV002748072 uncertain significance Hereditary cancer-predisposing syndrome 2022-07-26 criteria provided, single submitter clinical testing The p.H934R variant (also known as c.2801A>G), located in coding exon 20 of the KIT gene, results from an A to G substitution at nucleotide position 2801. The histidine at codon 934 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is not 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 RCV000477548 SCV004198082 uncertain significance Gastrointestinal stromal tumor 2023-12-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004696225 SCV005190107 uncertain significance not provided criteria provided, single submitter not provided
GeneDx RCV004696225 SCV005376450 uncertain significance not provided 2023-10-17 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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