ClinVar Miner

Submissions for variant NM_003042.4(SLC6A1):c.871C>T (p.Gln291Ter)

dbSNP: rs1064795098
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483777 SCV000570569 likely pathogenic not provided 2016-06-06 criteria provided, single submitter clinical testing The Q291X variant in the SLC6A1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q291X variant was not observed in approximately 6500 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 Q291X variant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded.
GenomeConnect, ClinGen RCV003444550 SCV000606974 not provided Myoclonic-astatic epilepsy no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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