ClinVar Miner

Submissions for variant NM_015338.6(ASXL1):c.967C>T (p.Arg323Cys)

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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 RCV005273057 SCV005931680 uncertain significance Inborn genetic diseases 2025-01-20 criteria provided, single submitter clinical testing The p.R323C variant (also known as c.967C>T), located in coding exon 10 of the ASXL1 gene, results from a C to T substitution at nucleotide position 967. The arginine at codon 323 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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