ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.1671-1G>T (rs730880276)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187170 SCV000240749 pathogenic not provided 2012-09-13 criteria provided, single submitter clinical testing c.1671-1 G>T:IVS10-1 G>T in intron 10 of the CNTNAP2 gene (NM_014141.4). The c.1671-1 G>T splice site mutation in the CNTNAP2 gene was previously reported in an individual with clinical features suggestive of Pitt-Hopkins syndrome who had a partial deletion of CNTNAP2 on the other chromosome (Zweier et al., 2009). This mutation destroys the canonical splice acceptor site in intron 10 and is expected to cause abnormal gene splicing. The variant is found in EPILEPSY panel(s).
OMIM RCV000005830 SCV000026012 pathogenic Pitt-Hopkins-like syndrome 1 2009-11-01 no assertion criteria provided literature only

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