ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.4934C>A (p.Ser1645Ter)

dbSNP: rs1559099927
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000680039 SCV000807478 pathogenic Intellectual disability, autosomal dominant 1 2017-09-01 criteria provided, single submitter clinical testing This nonsense variant is categorized as deleterious according to ACMG guidelines (PMID:18414213) and was found once in our laboratory de novo in a 11-year-old female with intelectual disability, dysarthria, hypotonia, epilepsy, dysmorphisms, 2-3 toe syndactyly, mcarocephaly, exotropia

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