ClinVar Miner

Submissions for variant NM_015338.6(ASXL1):c.703C>T (p.Arg235Trp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV005271014 SCV005936768 uncertain significance Inborn genetic diseases 2025-03-06 criteria provided, single submitter clinical testing The p.R235W variant (also known as c.703C>T), located in coding exon 8 of the ASXL1 gene, results from a C to T substitution at nucleotide position 703. The arginine at codon 235 is replaced by tryptophan, 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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