ClinVar Miner

Submissions for variant NM_183357.3(ADCY5):c.632C>T (p.Ala211Val)

dbSNP: rs764016753
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV001823450 SCV002072892 uncertain significance Dyskinesia with orofacial involvement, autosomal dominant criteria provided, single submitter clinical testing The missense variant p.A211V in ADCY5 (NM_183357.3) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. is novel (not in any individuals) in gnomAD Exomes. The p.A211V variant is novel (not in any individuals) in 1000 Genomes. In silico tools predict the variant to be tolerated and the residue is weakly conserved across species. For these reasons, this variant has been classified as Uncertain Significance.

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