ClinVar Miner

Submissions for variant NM_000744.7(CHRNA4):c.1825G>A (p.Val609Ile)

gnomAD frequency: 0.00006  dbSNP: rs201168195
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001721190 SCV000240531 likely benign not provided 2019-04-08 criteria provided, single submitter clinical testing
Invitae RCV000654310 SCV000776200 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 2024-01-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002408829 SCV002710533 uncertain significance Inborn genetic diseases 2017-07-26 criteria provided, single submitter clinical testing The p.V609I variant (also known as c.1825G>A), located in coding exon 6 of the CHRNA4 gene, results from a G to A substitution at nucleotide position 1825. The valine at codon 609 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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