ClinVar Miner

Submissions for variant NM_016023.5(OTUD6B):c.557A>G (p.Tyr186Cys)

dbSNP: rs1064797103
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000490986 SCV000492517 likely pathogenic Epilepsy; Dysmorphic features; Intellectual disability 2017-01-09 criteria provided, single submitter research This missense variant was found in one family, homozygous in 3 affected siblings: 20yo male with moderate intellectual disability, epilepsy, dysmorphic features, arachnodactyly; 16yo male with mild intellectual disability, epilepsy, dysmorphic features, hyperextensibility; 14yo female with moderate intellectual disability, epilepsy, dysmorphic features, arachnodactyly, hyperexensibility.
OMIM RCV000487494 SCV000574731 pathogenic Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies 2017-05-03 no assertion criteria provided literature only

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