ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.-33C>T (rs1057523882)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000434184 SCV000533662 uncertain significance not provided 2016-11-10 criteria provided, single submitter clinical testing A variant of unknown significance has been identified in the ADAMTS2 gene. The c.-33 C>T variant has not been published as a pathogenic variant or been reported as a benign variant to our knowledge. Data from control individuals was not available to assess whether c.-33 C>T may be a common benign variant in the general population. Although the c.-33 G>A variant is located in the 5' untranslated region of the ADAMTS2 gene and no other pathogenic variants have been reported in the promotor region of the ADAMTS2 gene (Stenson et al., 2014), it is predicted to create a new cryptic splice donor site and may cause abnormal gene splicing.Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign

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