ClinVar Miner

Submissions for variant NM_030632.3(ASXL3):c.694C>T (p.Arg232Ter)

dbSNP: rs1302254196
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002000136 SCV002230142 pathogenic not provided 2021-05-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg232*) in the ASXL3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ASXL3 are known to be pathogenic (PMID: 26647312, 28100473). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ASXL3-related conditions. For these reasons, this variant has been classified as Pathogenic.
PreventionGenetics, part of Exact Sciences RCV004728986 SCV005336492 likely pathogenic ASXL3-related disorder 2024-05-18 no assertion criteria provided clinical testing The ASXL3 c.694C>T variant is predicted to result in premature protein termination (p.Arg232*). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.00091% of alleles in individuals of European (Non-Finnish) descent in gnomAD. Nonsense variants in ASXL3 are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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