ClinVar Miner

Submissions for variant NM_015338.6(ASXL1):c.3917G>T (p.Gly1306Val)

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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 RCV005174650 SCV005804013 uncertain significance not provided 2024-05-02 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1306 of the ASXL1 protein (p.Gly1306Val). This variant is not present in population databases (gnomAD no frequency). 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 (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 RCV005269195 SCV005931958 uncertain significance Inborn genetic diseases 2025-02-15 criteria provided, single submitter clinical testing The p.G1306V variant (also known as c.3917G>T), located in coding exon 13 of the ASXL1 gene, results from a G to T substitution at nucleotide position 3917. The glycine at codon 1306 is replaced by valine, an amino acid with dissimilar 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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