ClinVar Miner

Submissions for variant NM_018489.3(ASH1L):c.2991_2992del (p.Leu998fs)

dbSNP: rs1570938310
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000820758 SCV000961485 pathogenic not provided 2018-08-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ASH1L are known to be pathogenic (PMID: 29276005). This variant has not been reported in the literature in individuals with ASH1L-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu998Glufs*12) in the ASH1L gene. It is expected to result in an absent or disrupted protein product.

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