ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.1454A>C (p.His485Pro)

dbSNP: rs1553891439
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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 RCV000556537 SCV000630421 uncertain significance Gastrointestinal stromal tumor 2022-07-29 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces histidine, which is basic and polar, with proline, which is neutral and non-polar, at codon 485 of the KIT protein (p.His485Pro). This variant has not been reported in the literature in individuals affected with KIT-related conditions. 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: 458873).
Ambry Genetics RCV002395321 SCV002696893 uncertain significance Hereditary cancer-predisposing syndrome 2023-11-23 criteria provided, single submitter clinical testing The p.H485P variant (also known as c.1454A>C), located in coding exon 9 of the KIT gene, results from an A to C substitution at nucleotide position 1454. The histidine at codon 485 is replaced by proline, an amino acid with 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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