ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.944T>A (p.Ile315Asn)

gnomAD frequency: 0.00003  dbSNP: rs377590954
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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 RCV000803797 SCV000943683 uncertain significance Gastrointestinal stromal tumor 2023-08-08 criteria provided, single submitter clinical testing The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces isoleucine, which is neutral and non-polar, with asparagine, which is neutral and polar, at codon 315 of the KIT protein (p.Ile315Asn). 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 648959). This variant has not been reported in the literature in individuals affected with KIT-related conditions.
Ambry Genetics RCV002370132 SCV002688305 uncertain significance Hereditary cancer-predisposing syndrome 2024-02-27 criteria provided, single submitter clinical testing The p.I315N variant (also known as c.944T>A), located in coding exon 6 of the KIT gene, results from a T to A substitution at nucleotide position 944. The isoleucine at codon 315 is replaced by asparagine, an amino acid with dissimilar 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.
Baylor Genetics RCV000803797 SCV004198098 uncertain significance Gastrointestinal stromal tumor 2023-09-20 criteria provided, single submitter clinical testing

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