ClinVar Miner

Submissions for variant NM_000744.7(CHRNA4):c.514C>T (p.Gln172Ter)

gnomAD frequency: 0.00004  dbSNP: rs112748821
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001040963 SCV001204556 uncertain significance Autosomal dominant nocturnal frontal lobe epilepsy 2023-08-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln172*) in the CHRNA4 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in CHRNA4 cause disease. This variant is present in population databases (rs112748821, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with CHRNA4-related conditions. This premature translational stop signal has been observed in at least one individual who was not affected with CHRNA4-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 839252). 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.
Athena Diagnostics Inc RCV002473170 SCV002770469 uncertain significance not provided 2022-06-07 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV002473170 SCV004225514 uncertain significance not provided 2022-12-07 criteria provided, single submitter clinical testing

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