ClinVar Miner

Submissions for variant NC_000005.9:g.(?_178554950)_(178564955_?)dup

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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 RCV001377666 SCV001575052 likely pathogenic Ehlers-Danlos syndrome, dermatosparaxis type 2020-08-23 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Loss-of-function variants in ADAMTS2 are known to be pathogenic (PMID: 10417273). This variant has not been reported in the literature in individuals with ADAMTS2-related conditions. This variant results in a copy number gain of the genomic region encompassing exon(s) 12-17 of the ADAMTS2 gene. While the exact position of this variant cannot be determined from the data, sub-genic copy number gains are generally in tandem (PMID: 25640679). This variant is predicted to be out-of-frame, and may result in an absent or disrupted protein product.

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