ClinVar Miner

Submissions for variant NM_000744.7(CHRNA4):c.1184C>T (p.Thr395Met)

gnomAD frequency: 0.00001  dbSNP: rs121912269
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196513 SCV001367121 uncertain significance Autosomal dominant nocturnal frontal lobe epilepsy 1 2020-03-09 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2,BP4.
Invitae RCV003114251 SCV003787871 uncertain significance Autosomal dominant nocturnal frontal lobe epilepsy 2023-10-13 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 395 of the CHRNA4 protein (p.Thr395Met). 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 variant has not been reported in the literature in individuals affected with CHRNA4-related conditions. ClinVar contains an entry for this variant (Variation ID: 98307). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CHRNA4 protein function. 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.
Psychiatry Genetics Yale University RCV000084597 SCV000116733 not provided Tobacco use disorder no assertion provided not provided

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