ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.3544C>T (p.Arg1182Ter)

gnomAD frequency: 0.00001  dbSNP: rs367553801
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000646236 SCV000767998 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2022-06-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1182*) in the ADAMTS2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 30 amino acid(s) of the ADAMTS2 protein. This variant is present in population databases (rs367553801, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with ADAMTS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 537398). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV000646236 SCV002793759 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2021-08-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV000646236 SCV002081880 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2019-10-28 no assertion criteria provided clinical testing

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