ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.2431del (p.Gln811fs)

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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 RCV003625171 SCV004408927 pathogenic Alpha thalassemia-X-linked intellectual disability syndrome 2023-01-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln811Serfs*11) in the ATRX gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ATRX are known to be pathogenic (PMID: 15591283, 18409179, 23681356). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ATRX-related conditions. For these reasons, this variant has been classified as Pathogenic.

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