ClinVar Miner

Submissions for variant NM_018489.3(ASH1L):c.6218G>A (p.Arg2073His)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine RCV003127275 SCV003803815 likely benign Autism spectrum disorder 2022-08-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004546785 SCV005041341 uncertain significance not provided 2024-04-01 criteria provided, single submitter clinical testing ASH1L: PM2, PP3
PreventionGenetics, part of Exact Sciences RCV004738724 SCV005341495 uncertain significance ASH1L-related disorder 2024-03-25 no assertion criteria provided clinical testing The ASH1L c.6218G>A variant is predicted to result in the amino acid substitution p.Arg2073His. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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