ClinVar Miner

Submissions for variant NM_005076.5(CNTN2):c.1460C>T (p.Thr487Ile)

gnomAD frequency: 0.00047  dbSNP: rs116647440
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000530898 SCV000654435 likely benign Epilepsy, familial adult myoclonic, 5 2024-01-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000530898 SCV000896225 uncertain significance Epilepsy, familial adult myoclonic, 5 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV001584332 SCV001811708 uncertain significance not provided 2021-12-15 criteria provided, single submitter clinical testing Reported previously in the heterozygous state in an individual with epilepsy and two control individuals (Stogmann et al., 2013); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 23518707)
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000530898 SCV003919812 uncertain significance Epilepsy, familial adult myoclonic, 5 2022-09-28 criteria provided, single submitter clinical testing This variant has not been reported in the literature but is present in the Genome Aggregation Database (Highest reported MAF 0.08% (56/68034) (https://gnomad.broadinstitute.org/variant/1-205064691-C-T?dataset=gnomad_r3). This variant is present in ClinVar (Variation ID:474464). Evolutionary conservation for this variant is unclear; computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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