ClinVar Miner

Submissions for variant NM_015338.6(ASXL1):c.3509T>C (p.Leu1170Ser)

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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 RCV005149027 SCV005778496 uncertain significance not provided 2024-04-15 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1170 of the ASXL1 protein (p.Leu1170Ser). 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The serine 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 RCV005269168 SCV005933125 uncertain significance Inborn genetic diseases 2025-02-01 criteria provided, single submitter clinical testing The p.L1170S variant (also known as c.3509T>C), located in coding exon 13 of the ASXL1 gene, results from a T to C substitution at nucleotide position 3509. The leucine at codon 1170 is replaced by serine, 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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