ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.324T>C (p.Asp108=)

gnomAD frequency: 0.00002  dbSNP: rs756947754
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768189 SCV000898620 uncertain significance Autism, susceptibility to, 15; Cortical dysplasia-focal epilepsy syndrome 2021-03-30 criteria provided, single submitter clinical testing CNTNAP2 NM_014141 exon 3 p.Asp108Asp (c.324T>C): This variant has not been reported in the literature but is present in 6/246236 individuals of various ethnicities in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs756947754). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV000883441 SCV001026750 likely benign Cortical dysplasia-focal epilepsy syndrome 2024-05-27 criteria provided, single submitter clinical testing

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