ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.2773+12A>T

dbSNP: rs1064794765
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485604 SCV000569900 uncertain significance not provided 2016-04-12 criteria provided, single submitter clinical testing A variant of uncertain significance in the CNTNAP2 gene has been identified. The c.2773+12 A>T variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Several in-silico splice prediction models predict that c.2773+12 A>T creates a cryptic donor site, which may supplant the natural donor for intron 17 and lead to abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV005090945 SCV005747542 likely benign Cortical dysplasia-focal epilepsy syndrome 2024-03-15 criteria provided, single submitter clinical testing

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