ClinVar Miner

Submissions for variant NM_015338.6(ASXL1):c.3649A>G (p.Thr1217Ala)

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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 RCV005273005 SCV005938698 uncertain significance Inborn genetic diseases 2025-01-20 criteria provided, single submitter clinical testing The p.T1217A variant (also known as c.3649A>G), located in coding exon 13 of the ASXL1 gene, results from an A to G substitution at nucleotide position 3649. The threonine at codon 1217 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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