ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.2275G>T (p.Asp759Tyr)

gnomAD frequency: 0.00001  dbSNP: rs754826149
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001211967 SCV001383535 uncertain significance Gastrointestinal stromal tumor 2024-01-18 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with tyrosine, which is neutral and polar, at codon 759 of the KIT protein (p.Asp759Tyr). This variant is present in population databases (rs754826149, gnomAD 0.0009%). 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: 942059). 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 RCV002447080 SCV002732129 uncertain significance Hereditary cancer-predisposing syndrome 2021-08-05 criteria provided, single submitter clinical testing The p.D759Y variant (also known as c.2275G>T), located in coding exon 16 of the KIT gene, results from a G to T substitution at nucleotide position 2275. The aspartic acid at codon 759 is replaced by tyrosine, an amino acid with highly dissimilar properties. This amino acid position is conserved. 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.

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