ClinVar Miner

Submissions for variant NM_003042.4(SLC6A1):c.384G>A (p.Ala128=)

gnomAD frequency: 0.00004  dbSNP: rs2272404
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002314553 SCV000848302 likely benign Inborn genetic diseases 2016-11-18 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV005056468 SCV002452714 likely benign Epilepsy with myoclonic atonic seizures 2024-11-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003432752 SCV004146940 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing SLC6A1: BP4, BP7

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