ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.596C>A (p.Ala199Glu)

dbSNP: rs76704342
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 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.

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