ClinVar Miner

Submissions for variant NM_018489.3(ASH1L):c.2134dup (p.Arg712fs)

dbSNP: rs1558150870
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
AiLife Diagnostics, AiLife Diagnostics RCV002224407 SCV002503051 likely pathogenic not provided 2020-06-17 criteria provided, single submitter clinical testing
GeneDx RCV002224407 SCV002765309 pathogenic not provided 2022-06-16 criteria provided, single submitter clinical testing Identified in an individual with Tourette syndrome in published literature, however clinical and familial segregation information was not provided (Liu et al, 2020); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 31673123)
Genome-Nilou Lab RCV003339935 SCV004050423 likely pathogenic Intellectual disability, autosomal dominant 52 2023-04-11 criteria provided, single submitter clinical testing

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