ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.1711A>G (p.Ile571Val)

gnomAD frequency: 0.00001  dbSNP: rs587778431
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000554408 SCV000630438 uncertain significance Gastrointestinal stromal tumor 2024-01-31 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 571 of the KIT protein (p.Ile571Val). This variant is present in population databases (rs587778431, gnomAD 0.01%). 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: 134622). 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 disruptive. 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 RCV003372617 SCV004094752 uncertain significance Hereditary cancer-predisposing syndrome 2023-06-19 criteria provided, single submitter clinical testing The p.I571V variant (also known as c.1711A>G), located in coding exon 11 of the KIT gene, results from an A to G substitution at nucleotide position 1711. The isoleucine at codon 571 is replaced by valine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. 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.
Baylor Genetics RCV000554408 SCV005059847 uncertain significance Gastrointestinal stromal tumor 2024-01-03 criteria provided, single submitter clinical testing
ITMI RCV000121315 SCV000085486 not provided not specified 2013-09-19 no assertion provided reference population

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