ClinVar Miner

Submissions for variant NM_000742.4(CHRNA2):c.323A>C (p.Asn108Thr)

gnomAD frequency: 0.00001  dbSNP: rs564532686
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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 RCV002046140 SCV002309990 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 2022-12-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003403654 SCV004105853 uncertain significance CHRNA2-related disorder 2022-12-09 criteria provided, single submitter clinical testing The CHRNA2 c.323A>C variant is predicted to result in the amino acid substitution p.Asn108Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0043% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/8-27326868-T-G). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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