ClinVar Miner

Submissions for variant NM_003042.4(SLC6A1):c.891G>A (p.Gly297=)

gnomAD frequency: 0.00006  dbSNP: rs151039956
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005056385 SCV000774476 likely benign Epilepsy with myoclonic atonic seizures 2024-12-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002317893 SCV000850622 likely benign Inborn genetic diseases 2017-04-21 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.
GeneDx RCV001563327 SCV001786247 likely benign not provided 2020-08-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001563327 SCV005042138 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing SLC6A1: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV004533416 SCV004730353 likely benign SLC6A1-related disorder 2021-05-13 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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