ClinVar Miner

Submissions for variant NC_000001.10:g.(?_33480103)_(33480215_?)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 RCV004583964 SCV005065078 pathogenic Reticular dysgenesis 2023-06-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with AK2-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 5 of the AK2 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in AK2 are known to be pathogenic (PMID: 19043416, 19043417, 19414857).

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