ClinVar Miner

Submissions for variant NM_000744.7(CHRNA4):c.1353G>A (p.Pro451=)

gnomAD frequency: 0.00222  dbSNP: rs113168860
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000116718 SCV000150689 likely benign not specified 2013-08-27 criteria provided, single submitter clinical testing
GeneDx RCV000116718 SCV000167715 benign not specified 2013-03-15 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.
Eurofins Ntd Llc (ga) RCV000116718 SCV000345969 benign not specified 2016-09-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000463488 SCV000563072 benign Autosomal dominant nocturnal frontal lobe epilepsy 2025-02-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002313867 SCV000847944 likely benign Inborn genetic diseases 2016-09-06 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.
CeGaT Center for Human Genetics Tuebingen RCV003436930 SCV004150891 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing CHRNA4: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV003436930 SCV005210124 likely benign not provided criteria provided, single submitter not provided
Athena Diagnostics RCV000116718 SCV005622664 benign not specified 2024-01-31 criteria provided, single submitter clinical testing

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