ClinVar Miner

Submissions for variant NC_000005.10:g.(?_179272901)_(179273074_?)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 RCV001032486 SCV001195793 pathogenic Ehlers-Danlos syndrome, dermatosparaxis type 2022-09-26 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 3 of the ADAMTS2 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 ADAMTS2 are known to be pathogenic (PMID: 10417273). A similar copy number variant has been observed in individual(s) with Ehlers–Danlos type VIIC (PMID: 15373769). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that a similar copy number variant affects ADAMTS2 function (PMID: 15373769). For these reasons, this variant has been classified as Pathogenic.

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