Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Genomics, |
RCV000768142 | SCV000898509 | uncertain significance | Ehlers-Danlos syndrome, dermatosparaxis type | 2021-03-30 | criteria provided, single submitter | clinical testing | ADAMTS2 NM_014244.4 exon 3 p.Ala199Glu (c.596C>A): This variant has not been reported in the literature and is present in 0.003% (1/30614) of South Asian alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/5-178700004-G-T). Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |