Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clinical Genetics and Genomics, |
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 |
RCV000419001 | SCV000504220 | likely pathogenic | Gastrointestinal stromal tumor | 2015-07-14 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000429190 | SCV000504221 | pathogenic | Melanoma | 2014-10-02 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000439434 | SCV000504222 | likely pathogenic | Acute myeloid leukemia | 2014-12-26 | no assertion criteria provided | literature only |