ClinVar Miner

Submissions for variant NM_003042.4(SLC6A1):c.1436G>A (p.Arg479Gln)

gnomAD frequency: 0.00006  dbSNP: rs771439149
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003444615 SCV000774462 likely benign Epilepsy with myoclonic atonic seizures 2024-11-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV003444615 SCV000895525 uncertain significance Epilepsy with myoclonic atonic seizures 2018-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002388145 SCV002702855 uncertain significance Inborn genetic diseases 2018-04-12 criteria provided, single submitter clinical testing The p.R479Q variant (also known as c.1436G>A), located in coding exon 12 of the SLC6A1 gene, results from a G to A substitution at nucleotide position 1436. The arginine at codon 479 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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