ClinVar Miner

Submissions for variant NM_198903.2(GABRG2):c.942C>A (p.Tyr314Ter) (rs1064794724)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479647 SCV000569801 likely pathogenic not provided 2016-04-06 criteria provided, single submitter clinical testing A novel Y274X variant that is likely pathogenic has been identified in the GABRG2 gene. The Y274X variant hasnot been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was notobserved in approximately 6,500 individuals of European and African American ancestry in the NHLBI ExomeSequencing Project, indicating it is not a common benign variant in these populations. The Y274X nonsense variantgene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediatedmRNA decay. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot beexcluded.

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