ClinVar Miner

Submissions for variant NM_000811.3(GABRA6):c.1009del (p.Arg337fs)

dbSNP: rs765780675
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484582 SCV000573555 uncertain significance not provided 2017-03-01 criteria provided, single submitter clinical testing The c.1009delA variant in the GABRA6 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1009delA variant causes a frameshift starting with codon Arginine 337, changes this amino acid to a Glycine residue, and creates a premature Stop codon at position 11 of the new reading frame, denoted p.Arg337GlyfsX11. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1009delA variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.1009delA as a variant of uncertain significance.
GenomeConnect, ClinGen RCV000509493 SCV000607041 not provided GABRA6-related disorder 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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