ClinVar Miner

Submissions for variant NM_018486.3(HDAC8):c.104_105del (p.Pro35fs)

dbSNP: rs1556165162
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Genetics Lab, Policlinico S. Orsola.Malpighi RCV000656365 SCV000747096 pathogenic Cornelia de Lange syndrome 5 2018-05-03 criteria provided, single submitter clinical testing This is a predicted null variant (frameshift) in a gene (HDAC8) where loss of function is a known cause of disease. It is absent from large population databases. No other family members were affected and the variant is likely de novo in this female patient (absent in her father, sister and maternal grandomother; her mother died due to accidental causes). Mutations in HDAC8 are a known cause of Cornelia de Lange syndrome type 5 and Intellectual Disability; clinical features of this patient are consistent with those previously described in patients with HDAC8 mutations.

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