ClinVar Miner

Submissions for variant NM_000744.7(CHRNA4):c.1418G>A (p.Ser473Asn)

dbSNP: rs2068560302
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001334566 SCV001527446 uncertain significance Autosomal dominant nocturnal frontal lobe epilepsy 1 2018-10-16 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV002546690 SCV003346890 uncertain significance Autosomal dominant nocturnal frontal lobe epilepsy 2022-05-15 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 473 of the CHRNA4 protein (p.Ser473Asn). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CHRNA4-related conditions. ClinVar contains an entry for this variant (Variation ID: 1032458). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Ambry Genetics RCV002546689 SCV003548796 uncertain significance Inborn genetic diseases 2020-12-29 criteria provided, single submitter clinical testing The c.1418G>A (p.S473N) alteration is located in exon 5 (coding exon 5) of the CHRNA4 gene. This alteration results from a G to A substitution at nucleotide position 1418, causing the serine (S) at amino acid position 473 to be replaced by an asparagine (N). The p.S473N 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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