ClinVar Miner

Submissions for variant NM_005076.5(CNTN2):c.3001G>A (p.Val1001Met)

gnomAD frequency: 0.00001  dbSNP: rs369729930
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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 RCV001070677 SCV001235942 likely benign Epilepsy, familial adult myoclonic, 5 2024-01-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV004030760 SCV003946209 uncertain significance not specified 2023-05-03 criteria provided, single submitter clinical testing The c.3001G>A (p.V1001M) alteration is located in exon 22 (coding exon 21) of the CNTN2 gene. This alteration results from a G to A substitution at nucleotide position 3001, causing the valine (V) at amino acid position 1001 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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