ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.2087A>T (p.Asp696Val)

dbSNP: rs1722444395
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001228165 SCV001400551 uncertain significance Gastrointestinal stromal tumor 2022-07-19 criteria provided, single submitter clinical testing 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 955511). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 696 of the KIT protein (p.Asp696Val).
CeGaT Center for Human Genetics Tuebingen RCV001726455 SCV001962567 uncertain significance not provided 2021-09-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002418786 SCV002727822 uncertain significance Hereditary cancer-predisposing syndrome 2024-07-09 criteria provided, single submitter clinical testing The p.D696V variant (also known as c.2087A>T), located in coding exon 14 of the KIT gene, results from an A to T substitution at nucleotide position 2087. The aspartic acid at codon 696 is replaced by valine, 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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