ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.2086G>A (p.Asp696Asn)

gnomAD frequency: 0.00003  dbSNP: rs781588289
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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 RCV000705844 SCV000834861 uncertain significance Gastrointestinal stromal tumor 2023-03-13 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 581893). This variant has not been reported in the literature in individuals affected with KIT-related conditions. This variant is present in population databases (rs781588289, gnomAD 0.004%). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 696 of the KIT protein (p.Asp696Asn).
Ambry Genetics RCV002422605 SCV002726555 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-14 criteria provided, single submitter clinical testing The p.D696N variant (also known as c.2086G>A), located in coding exon 14 of the KIT gene, results from a G to A substitution at nucleotide position 2086. The aspartic acid at codon 696 is replaced by asparagine, an amino acid with highly 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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