ClinVar Miner

Submissions for variant NM_000744.7(CHRNA4):c.1061G>A (p.Arg354His)

gnomAD frequency: 0.00003  dbSNP: rs200605749
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001066471 SCV001231482 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 2024-01-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002411594 SCV002714799 uncertain significance Inborn genetic diseases 2018-05-16 criteria provided, single submitter clinical testing The p.R354H variant (also known as c.1061G>A), located in coding exon 5 of the CHRNA4 gene, results from a G to A substitution at nucleotide position 1061. The arginine at codon 354 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is well 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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