ClinVar Miner

Submissions for variant NM_000814.6(GABRB3):c.485T>C (p.Met162Thr)

dbSNP: rs1555368636
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521015 SCV000621169 likely pathogenic not provided 2017-09-26 criteria provided, single submitter clinical testing The M162T variant in the GABRB3 gene has not been reported previously as a pathogenic variant,nor as a benign variant, to our knowledge. The variant is not observed in large population cohorts(Lek et al., 2016). The variant is a non-conservative amino acid substitution, which is likely to impactsecondary protein structure as these residues differ in polarity, charge, size and/or other properties.This substitution occurs at a position that is conserved across species. In silico analysis predicts thisvariant is probably damaging to the protein structure/function. We interpret M162T as a likelypathogenic variant.

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