ClinVar Miner

Submissions for variant NM_004036.5(ADCY3):c.3079C>T (p.Leu1027Phe)

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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 RCV004748212 SCV005347124 uncertain significance ADCY3-related disorder 2023-12-18 no assertion criteria provided clinical testing The ADCY3 c.3082C>T variant is predicted to result in the amino acid substitution p.Leu1028Phe. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. 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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