ClinVar Miner

Submissions for variant NM_003042.4(SLC6A1):c.317A>G (p.Gln106Arg)

dbSNP: rs1064795290
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481964 SCV000570961 likely pathogenic not provided 2016-07-18 criteria provided, single submitter clinical testing The Q106R variant in the SLC6A1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The Q106R variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The Q106R variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret Q106R as a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded.
Mendelics RCV003444551 SCV001136317 likely pathogenic Epilepsy with myoclonic atonic seizures 2019-05-28 criteria provided, single submitter clinical testing

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