ClinVar Miner

Submissions for variant NM_015338.6(ASXL1):c.3969G>A (p.Met1323Ile)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004770515 SCV005379370 uncertain significance not provided 2023-11-08 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function
Ambry Genetics RCV005269049 SCV005932050 uncertain significance Inborn genetic diseases 2024-12-20 criteria provided, single submitter clinical testing The p.M1323I variant (also known as c.3969G>A), located in coding exon 13 of the ASXL1 gene, results from a G to A substitution at nucleotide position 3969. The methionine at codon 1323 is replaced by isoleucine, an amino acid with highly 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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