ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.2146G>A (p.Asp716Asn)

gnomAD frequency: 0.00002  dbSNP: rs769701248
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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 RCV000473358 SCV000550125 uncertain significance Gastrointestinal stromal tumor 2023-10-22 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 716 of the KIT protein (p.Asp716Asn). This variant is present in population databases (rs769701248, gnomAD 0.003%). 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: 409784). 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.
GeneDx RCV002466507 SCV002762221 uncertain significance not provided 2022-06-09 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 15685537)
Baylor Genetics RCV000473358 SCV004190401 uncertain significance Gastrointestinal stromal tumor 2023-05-25 criteria provided, single submitter clinical testing

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