ClinVar Miner

Submissions for variant NC_000023.10:g.(?_76944291)_(76972740_?)del

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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 RCV000794126 SCV000933516 pathogenic Alpha thalassemia-X-linked intellectual disability syndrome 2018-12-24 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exons 2-7 of the ATRX gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with ATRX-related conditions. Loss-of-function variants in ATRX are known to be pathogenic (PMID: 18409179, 23681356). For these reasons, this variant has been classified as Pathogenic.

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