ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.1883G>A (p.Ser628Asn)

dbSNP: rs2109781181
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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 RCV001995435 SCV002267198 uncertain significance Gastrointestinal stromal tumor 2021-09-08 criteria provided, single submitter clinical testing This sequence change replaces serine with asparagine at codon 628 of the KIT protein (p.Ser628Asn). The serine residue is highly conserved and there is a small physicochemical difference between serine and asparagine. 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with KIT-related conditions. This variant is not present in population databases (ExAC no frequency).
Ambry Genetics RCV003365617 SCV004054140 uncertain significance Hereditary cancer-predisposing syndrome 2023-06-15 criteria provided, single submitter clinical testing The p.S628N variant (also known as c.1883G>A), located in coding exon 13 of the KIT gene, results from a G to A substitution at nucleotide position 1883. The serine at codon 628 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. 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.

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