ClinVar Miner

Submissions for variant NM_000744.7(CHRNA4):c.1029G>C (p.Trp343Cys)

gnomAD frequency: 0.00001  dbSNP: rs1234808455
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332571 SCV001524941 uncertain significance Autosomal dominant nocturnal frontal lobe epilepsy 1 2020-04-14 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV002384445 SCV002693332 uncertain significance Inborn genetic diseases 2020-03-27 criteria provided, single submitter clinical testing The p.W343C variant (also known as c.1029G>C), located in coding exon 5 of the CHRNA4 gene, results from a G to C substitution at nucleotide position 1029. The tryptophan at codon 343 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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