ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.2851G>A (p.Val951Ile)

gnomAD frequency: 0.00001  dbSNP: rs745651409
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000633773 SCV000755046 uncertain significance Gastrointestinal stromal tumor 2023-10-25 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 951 of the KIT protein (p.Val951Ile). This variant is present in population databases (rs745651409, gnomAD 0.002%). 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: 528552). 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 tolerated. 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 RCV001016767 SCV001177762 uncertain significance Hereditary cancer-predisposing syndrome 2024-09-19 criteria provided, single submitter clinical testing The p.V951I variant (also known as c.2851G>A), located in coding exon 21 of the KIT gene, results from a G to A substitution at nucleotide position 2851. The valine at codon 951 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is not 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.
PreventionGenetics, part of Exact Sciences RCV004748871 SCV005352505 uncertain significance KIT-related disorder 2024-09-05 no assertion criteria provided clinical testing The KIT c.2851G>A variant is predicted to result in the amino acid substitution p.Val951Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0018% of alleles in individuals of European (Non-Finnish) descent in gnomAD. This variant is interpreted as a variant of uncertain significance in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/528552/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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