ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.1344G>C (p.Gln448His)

dbSNP: rs542718349
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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 RCV000542414 SCV000630414 uncertain significance Gastrointestinal stromal tumor 2024-10-06 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 448 of the KIT protein (p.Gln448His). This variant is present in population databases (rs542718349, gnomAD 0.006%). 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: 458867). 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. 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.
Ambry Genetics RCV002384072 SCV002695095 uncertain significance Hereditary cancer-predisposing syndrome 2023-09-27 criteria provided, single submitter clinical testing The p.Q448H variant (also known as c.1344G>C), located in coding exon 8 of the KIT gene, results from a G to C substitution at nucleotide position 1344. The glutamine at codon 448 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV000542414 SCV005059853 uncertain significance Gastrointestinal stromal tumor 2023-12-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005027628 SCV005658208 uncertain significance Gastrointestinal stromal tumor; Piebaldism; Acute myeloid leukemia; Cutaneous mastocytosis; Germ cell tumor of testis 2024-03-28 criteria provided, single submitter clinical testing

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