ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.1810G>A (p.Val604Ile)

dbSNP: rs2109779617
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001944576 SCV002131149 uncertain significance Gastrointestinal stromal tumor 2021-08-30 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with piebaldism (PMID: 16220461). This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with isoleucine at codon 604 of the KIT protein (p.Val604Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine. 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.

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