ClinVar Miner

Submissions for variant NM_018489.3(ASH1L):c.466G>A (p.Glu156Lys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003493215 SCV004237804 likely benign Intellectual disability, autosomal dominant 52 2023-11-09 criteria provided, single submitter clinical testing
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center RCV003493215 SCV005397610 uncertain significance Intellectual disability, autosomal dominant 52 2024-01-17 criteria provided, single submitter clinical testing This sequence variant is a single nucleotide substitution (G>A) at position 466 of the coding sequence of the ASH1L gene that results in a glutamic acid to lysine amino acid change at residue 156 of the ASH1 like histone lysine methyltransferase protein. This variant is absent from ClinVar and has not been observed in individuals affected by an ASH1L-related disorder in the published literature, to our knowledge. This variant is present in 7 of 1461628 alleles (0.0005%) in the gnomAD v4.0.0 population dataset. Bioinformatic tools are inconclusive if this amino acid change will be damaging or tolerated, and the Glu156 residue at this position is highly conserved across the vertebrate species examined. Studies examining the functional consequence of this variant have not been published, to our knowledge. At this time, there is insufficient evidence to determine if this variant is pathogenic or benign. Therefore, we consider this a variant of uncertain significance. ACMG Criteria: PM2

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