ClinVar Miner

Submissions for variant NM_005076.5(CNTN2):c.2037G>A (p.Met679Ile)

gnomAD frequency: 0.00003  dbSNP: rs376343938
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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 RCV001061499 SCV001226243 likely benign Epilepsy, familial adult myoclonic, 5 2023-11-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV004031961 SCV003873357 uncertain significance not specified 2023-02-15 criteria provided, single submitter clinical testing The c.2037G>A (p.M679I) alteration is located in exon 16 (coding exon 15) of the CNTN2 gene. This alteration results from a G to A substitution at nucleotide position 2037, causing the methionine (M) at amino acid position 679 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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