ClinVar Miner

Submissions for variant NC_000023.10:g.(?_76763809)_(76972740_?)dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000708358 SCV000837468 uncertain significance Alpha thalassemia-X-linked intellectual disability syndrome 2019-12-18 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing exons 2 to 35 the ATRX gene. The 5' boundary is likely confined to intron 1. The 3' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome. A similar copy number gain of exons 2-35 has been reported in a family affected with ATRX syndrome (PMID: 17579672). Experimental studies are not available for this variant, and the functional significance of the duplicated exons is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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