Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001234636 | SCV001407292 | uncertain significance | Gastrointestinal stromal tumor | 2023-07-18 | 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. 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. ClinVar contains an entry for this variant (Variation ID: 961009). This variant has not been reported in the literature in individuals affected with KIT-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 580 of the KIT protein (p.His580Tyr). |
| Ambry Genetics | RCV002402737 | SCV002713835 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-01-27 | criteria provided, single submitter | clinical testing | The p.H580Y variant (also known as c.1738C>T), located in coding exon 11 of the KIT gene, results from a C to T substitution at nucleotide position 1738. The histidine at codon 580 is replaced by tyrosine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |