ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.2912T>C (p.Leu971Pro)

dbSNP: rs929287265
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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 RCV000693878 SCV000822300 uncertain significance Gastrointestinal stromal tumor 2022-12-13 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 971 of the KIT protein (p.Leu971Pro). 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. ClinVar contains an entry for this variant (Variation ID: 572486). This variant has not been reported in the literature in individuals affected with KIT-related conditions. This variant is not present in population databases (gnomAD no frequency).
Ambry Genetics RCV003380684 SCV004088200 uncertain significance Hereditary cancer-predisposing syndrome 2023-07-16 criteria provided, single submitter clinical testing The p.L971P variant (also known as c.2912T>C), located in coding exon 21 of the KIT gene, results from a T to C substitution at nucleotide position 2912. The leucine at codon 971 is replaced by proline, an amino acid with 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.

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