ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.2072G>C (p.Cys691Ser)

gnomAD frequency: 0.00001  dbSNP: rs35200131
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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 RCV001227094 SCV001399433 uncertain significance Gastrointestinal stromal tumor 2022-03-23 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with serine, which is neutral and polar, at codon 691 of the KIT protein (p.Cys691Ser). This variant is present in population databases (rs35200131, 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: 954606). 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"). 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 RCV003153951 SCV003842373 uncertain significance not provided 2022-09-15 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 26986070)
Baylor Genetics RCV001227094 SCV004190388 uncertain significance Gastrointestinal stromal tumor 2023-06-15 criteria provided, single submitter clinical testing

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