ClinVar Miner

Submissions for variant NM_015338.6(ASXL1):c.1249C>T (p.Arg417Ter)

gnomAD frequency: 0.00004  dbSNP: rs375215583
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000326340 SCV000338803 uncertain significance not provided 2016-01-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000326340 SCV004659470 pathogenic not provided 2023-12-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg417*) in the ASXL1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ASXL1 are known to be pathogenic (PMID: 21706002). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with ASXL1-related conditions. ClinVar contains an entry for this variant (Variation ID: 285668). For these reasons, this variant has been classified as Pathogenic.
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV004017584 SCV004847221 likely pathogenic Bohring-Opitz syndrome 2023-07-16 criteria provided, single submitter clinical testing

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