ClinVar Miner

Submissions for variant NM_000744.7(CHRNA4):c.311A>C (p.Asp104Ala)

gnomAD frequency: 0.00001  dbSNP: rs202042826
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001206006 SCV001377292 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 2023-10-05 criteria provided, single submitter clinical testing
GeneDx RCV001587223 SCV001816348 uncertain significance not provided 2020-11-19 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002561207 SCV003693321 uncertain significance Inborn genetic diseases 2022-08-26 criteria provided, single submitter clinical testing The c.311A>C (p.D104A) alteration is located in exon 4 (coding exon 4) of the CHRNA4 gene. This alteration results from an A to C substitution at nucleotide position 311, causing the aspartic acid (D) at amino acid position 104 to be replaced by an alanine (A). Based on data from gnomAD, the C allele has an overall frequency of <0.001% (1/249224) total alleles studied. The highest observed frequency was 0.001% (1/112154) of European (non-Finnish) alleles. This amino acid position is not well conserved in available vertebrate species. This alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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