ClinVar Miner

Submissions for variant NM_000744.7(CHRNA4):c.1495G>A (p.Ala499Thr)

gnomAD frequency: 0.00001  dbSNP: rs150336658
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000261070 SCV000341312 uncertain significance not provided 2016-04-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001079088 SCV000658074 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 2024-05-20 criteria provided, single submitter clinical testing
Baylor Genetics RCV001334567 SCV001527447 uncertain significance Autosomal dominant nocturnal frontal lobe epilepsy 1 2018-02-01 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV000261070 SCV001993138 uncertain significance not provided 2019-03-13 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002519288 SCV003689025 likely benign Inborn genetic diseases 2022-07-26 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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