ClinVar Miner

Submissions for variant NM_005076.5(CNTN2):c.1216G>A (p.Ala406Thr)

gnomAD frequency: 0.00007  dbSNP: rs752262787
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001941523 SCV002236710 likely benign Epilepsy, familial adult myoclonic, 5 2024-01-12 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV001941523 SCV002496056 uncertain significance Epilepsy, familial adult myoclonic, 5 2021-03-30 criteria provided, single submitter clinical testing CNTN2 NM_005076.3 exon 10 p.Ala406Thr (c.1216G>A): This variant has not been reported in the literature but is present in 0.008% (5/64574) of European alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/1-205062545-G-A). Evolutionary conservation and computational prediction tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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