ClinVar Miner

Submissions for variant NM_004036.5(ADCY3):c.3398C>G (p.Ser1133Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV004748368 SCV005351643 uncertain significance ADCY3-related disorder 2024-08-27 no assertion criteria provided clinical testing The ADCY3 c.3401C>G variant is predicted to result in the amino acid substitution p.Ser1134Cys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0040% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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