ClinVar Miner

Submissions for variant NM_000742.4(CHRNA2):c.684C>T (p.Ser228=)

gnomAD frequency: 0.00073  dbSNP: rs143536618
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000439192 SCV000512601 benign not specified 2015-07-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000458723 SCV000562075 benign Autosomal dominant nocturnal frontal lobe epilepsy 2024-01-22 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000439192 SCV000858867 likely benign not specified 2017-12-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002365466 SCV002665518 likely benign Inborn genetic diseases 2017-12-04 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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