ClinVar Miner

Submissions for variant NM_000748.3(CHRNB2):c.1407C>G (p.Val469=)

gnomAD frequency: 0.00024  dbSNP: rs138886952
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124305 SCV000167733 benign not specified 2013-04-02 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 RCV000226117 SCV000285619 benign Autosomal dominant nocturnal frontal lobe epilepsy 2024-12-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002390278 SCV002698916 benign Inborn genetic diseases 2017-06-27 criteria provided, single submitter clinical testing This alteration is classified as 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV005229939 SCV005879863 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 3 2024-11-14 criteria provided, single submitter clinical testing

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