ClinVar Miner

Submissions for variant NM_001385079.1(PDE10A):c.3128C>A (p.Ser1043Tyr)

dbSNP: rs1781435066
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001591758 SCV001815821 uncertain significance Infantile-onset generalized dyskinesia with orofacial involvement 2020-10-30 criteria provided, single submitter clinical testing The c.2300C>A; (p.Ser767Tyr) missense variant in exon 23 of 23 of PDE10A has not been reported in affected individuals in the available literature. This variant is absent in gnomADv3 indicating it is not a common benign variant in the populations represented in this database. In silico predictors suggest this variant is Benign (REVEL; score: 0.082) and Damaging (SIFT; score: 0.015). Given the evidence regarding its pathogenicity, the c.2300C>A; (p.Ser767Tyr) variant identified in the PDE10A gene is reported as a Variant of Uncertain Significance.

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