ClinVar Miner

Submissions for variant NM_005076.5(CNTN2):c.703C>T (p.Arg235Trp)

gnomAD frequency: 0.00006  dbSNP: rs747208674
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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 RCV002107537 SCV002398590 likely benign Epilepsy, familial adult myoclonic, 5 2024-01-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV004045854 SCV004075330 uncertain significance not specified 2023-07-12 criteria provided, single submitter clinical testing The c.703C>T (p.R235W) alteration is located in exon 7 (coding exon 6) of the CNTN2 gene. This alteration results from a C to T substitution at nucleotide position 703, causing the arginine (R) at amino acid position 235 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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