ClinVar Miner

Submissions for variant NM_000742.4(CHRNA2):c.643C>A (p.Gln215Lys)

dbSNP: rs1812608078
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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 RCV002120978 SCV002448623 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 2023-12-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV004612150 SCV005104245 uncertain significance Inborn genetic diseases 2024-03-30 criteria provided, single submitter clinical testing The c.643C>A (p.Q215K) alteration is located in exon 6 (coding exon 5) of the CHRNA2 gene. This alteration results from a C to A substitution at nucleotide position 643, causing the glutamine (Q) at amino acid position 215 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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