ClinVar Miner

Submissions for variant NM_005076.5(CNTN2):c.1001C>T (p.Ser334Leu)

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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 RCV003113186 SCV003791268 likely benign Epilepsy, familial adult myoclonic, 5 2024-01-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV004245946 SCV004071292 uncertain significance not specified 2023-06-26 criteria provided, single submitter clinical testing The c.1001C>T (p.S334L) alteration is located in exon 9 (coding exon 8) of the CNTN2 gene. This alteration results from a C to T substitution at nucleotide position 1001, causing the serine (S) at amino acid position 334 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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