ClinVar Miner

Submissions for variant NM_003042.4(SLC6A1):c.1425C>T (p.Tyr475=)

gnomAD frequency: 0.00004  dbSNP: rs201643896
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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 RCV002317587 SCV000851137 likely benign Inborn genetic diseases 2016-08-09 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 RCV005056475 SCV001385011 likely benign Epilepsy with myoclonic atonic seizures 2024-10-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004808865 SCV005431929 likely benign not provided 2024-11-01 criteria provided, single submitter clinical testing SLC6A1: BP4, BP7

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