ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.2927del (p.Pro976fs)

dbSNP: rs1762828499
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001202920 SCV001374055 pathogenic Ehlers-Danlos syndrome, dermatosparaxis type 2020-12-05 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 with ADAMTS2-related conditions. ClinVar contains an entry for a similar frameshift at this codon (Variation ID: 934514). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Pro976Leufs*14) in the ADAMTS2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ADAMTS2 are known to be pathogenic (PMID: 10417273).

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