ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.2938C>T (p.Arg980Ter)

gnomAD frequency: 0.00001  dbSNP: rs1171795845
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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 RCV001383508 SCV001582659 pathogenic Ehlers-Danlos syndrome, dermatosparaxis type 2023-07-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 1071129). This variant has not been reported in the literature in individuals affected with ADAMTS2-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change creates a premature translational stop signal (p.Arg980*) 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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