ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.1056C>G (p.Asn352Lys)

gnomAD frequency: 0.00001  dbSNP: rs372759291
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000633803 SCV000755076 uncertain significance Gastrointestinal stromal tumor 2023-08-17 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: 528581). This variant has not been reported in the literature in individuals affected with KIT-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 352 of the KIT protein (p.Asn352Lys).
Ambry Genetics RCV003162820 SCV003911341 uncertain significance Hereditary cancer-predisposing syndrome 2023-03-02 criteria provided, single submitter clinical testing The p.N352K variant (also known as c.1056C>G), located in coding exon 6 of the KIT gene, results from a C to G substitution at nucleotide position 1056. The asparagine at codon 352 is replaced by lysine, an amino acid with 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.
Baylor Genetics RCV000633803 SCV005059850 uncertain significance Gastrointestinal stromal tumor 2023-12-26 criteria provided, single submitter clinical testing
GeneDx RCV004768486 SCV005378615 uncertain significance not provided 2023-11-21 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

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