ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.3983_*2del (p.Glu1328fs)

dbSNP: rs1799967583
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001305271 SCV001494600 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2019-01-31 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. This variant has been observed in individual affected with clinical features of Pitt-Hopkins-like syndrome (Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (ExAC no frequency). This sequence change results in a frameshift in the CNTNAP2 gene (p.Glu1328Glyfs*51). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 4 amino acids of the CNTNAP2 protein and extend the protein by an additional 50 amino acids.

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