ClinVar Miner

Submissions for variant NM_000744.7(CHRNA4):c.200G>A (p.Gly67Asp)

dbSNP: rs1568819500
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002318619 SCV000849849 uncertain significance Inborn genetic diseases 2017-06-12 criteria provided, single submitter clinical testing The p.G67D variant (also known as c.200G>A), located in coding exon 2 of the CHRNA4 gene, results from a G to A substitution at nucleotide position 200. The glycine at codon 67 is replaced by aspartic acid, an amino acid with 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.
Invitae RCV001862058 SCV002184461 uncertain significance Autosomal dominant nocturnal frontal lobe epilepsy 2021-07-26 criteria provided, single submitter clinical testing This sequence change replaces glycine with aspartic acid at codon 67 of the CHRNA4 protein (p.Gly67Asp). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is not present in population databases (ExAC no frequency). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 589196). This variant has been observed in at least one individual who was not affected with CHRNA4-related conditions (Invitae). This variant has not been reported in the literature in individuals affected with CHRNA4-related conditions.

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