ClinVar Miner

Submissions for variant NM_005445.4(SMC3):c.430-3del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics Laboratory, Stanford Medicine RCV005234850 SCV005882680 uncertain significance Cornelia de Lange syndrome 3 2023-03-22 criteria provided, single submitter clinical testing The c.430-3del variant in the SMC3 gene has not been previously reported in association with disease.This variant was absent from large population databases, including the Genome Aggregation Database (http://gnomad.broadinstitute.org/). This variant occurs in the 3’ acceptor splice site of intron 7. Computational splicing tools do not agree on the predicted impact to splicing; however, the accuracy of in silico algorithms is limited. These data were assessed using the ACMG/AMP variant interpretation guidelines. In summary, the significance of the c.430-3del variant is uncertain. Additional information is needed to resolve the significance of this variant. [ACMG evidence codes used: PM2]

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