ClinVar Miner

Submissions for variant NM_000744.7(CHRNA4):c.1504G>T (p.Ala502Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002983119 SCV003292964 uncertain significance Autosomal dominant nocturnal frontal lobe epilepsy 2021-12-24 criteria provided, single submitter clinical testing 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with CHRNA4-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 502 of the CHRNA4 protein (p.Ala502Ser).
Revvity Omics, Revvity RCV003485802 SCV004235076 uncertain significance Autosomal dominant nocturnal frontal lobe epilepsy 1 2023-11-07 criteria provided, single submitter clinical testing

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