ClinVar Miner

Submissions for variant NM_015338.6(ASXL1):c.3415A>G (p.Thr1139Ala)

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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 RCV005181103 SCV005811093 uncertain significance not provided 2024-07-22 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 1139 of the ASXL1 protein (p.Thr1139Ala). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with ASXL1-related conditions. An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The alanine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV005269201 SCV005936141 uncertain significance Inborn genetic diseases 2024-12-20 criteria provided, single submitter clinical testing The p.T1139A variant (also known as c.3415A>G), located in coding exon 13 of the ASXL1 gene, results from an A to G substitution at nucleotide position 3415. The threonine at codon 1139 is replaced by alanine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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