ClinVar Miner

Submissions for variant NM_015338.6(ASXL1):c.628C>G (p.Leu210Val)

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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 RCV005274845 SCV005938884 uncertain significance Inborn genetic diseases 2024-12-16 criteria provided, single submitter clinical testing The p.L210V variant (also known as c.628C>G), located in coding exon 8 of the ASXL1 gene, results from a C to G substitution at nucleotide position 628. The leucine at codon 210 is replaced by valine, 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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