ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.2466T>G (p.Asn822Lys)

dbSNP: rs121913514
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics and Genomics, Karolinska University Hospital RCV001269906 SCV001450261 pathogenic not provided 2015-01-08 criteria provided, single submitter clinical testing
Invitae RCV000419001 SCV004374770 pathogenic Gastrointestinal stromal tumor 2023-10-15 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 822 of the KIT protein (p.Asn822Lys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with gastrointestinal stromal tumors (Invitae). ClinVar contains an entry for this variant (Variation ID: 375932). 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. Experimental studies have shown that this missense change affects KIT function (PMID: 15790786, 17699867, 20890793, 21262832, 28506695). This variant disrupts the p.Asn822 amino acid residue in KIT. Other variant(s) that disrupt this residue have been observed in individuals with KIT-related conditions (PMID: 18724244, 21689725), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic.
Database of Curated Mutations (DoCM) RCV000419001 SCV000504220 likely pathogenic Gastrointestinal stromal tumor 2015-07-14 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000429190 SCV000504221 pathogenic Melanoma 2014-10-02 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000439434 SCV000504222 likely pathogenic Acute myeloid leukemia 2014-12-26 no assertion criteria provided literature only

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