ClinVar Miner

Submissions for variant NM_000742.4(CHRNA2):c.325G>A (p.Val109Ile)

gnomAD frequency: 0.00001  dbSNP: rs1341647863
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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 RCV000796508 SCV000936026 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 2024-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV004972957 SCV005555425 uncertain significance Inborn genetic diseases 2024-08-13 criteria provided, single submitter clinical testing The c.325G>A (p.V109I) alteration is located in exon 4 (coding exon 3) of the CHRNA2 gene. This alteration results from a G to A substitution at nucleotide position 325, causing the valine (V) at amino acid position 109 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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