ClinVar Miner

Submissions for variant NM_015665.6(AAAS):c.211_214dup (p.His72fs)

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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 RCV003714267 SCV004487565 pathogenic not provided 2022-12-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His72Profs*16) in the AAAS gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in AAAS are known to be pathogenic (PMID: 11159947). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with AAAS-related conditions. For these reasons, this variant has been classified as Pathogenic.

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