ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.2651A>G (p.Lys884Arg)

dbSNP: rs1722944030
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001929248 SCV002206808 uncertain significance Gastrointestinal stromal tumor 2023-07-12 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. This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 884 of the KIT protein (p.Lys884Arg). This variant is not present in population databases (gnomAD no frequency). 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: 1426138).
Ambry Genetics RCV004946895 SCV005608884 uncertain significance Hereditary cancer-predisposing syndrome 2024-12-04 criteria provided, single submitter clinical testing The c.2651A>G (p.K884R) alteration is located in exon 19 (coding exon 19) of the KIT gene. This alteration results from a A to G substitution at nucleotide position 2651, causing the lysine (K) at amino acid position 884 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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