ClinVar Miner

Submissions for variant NM_198903.2(GABRG2):c.1005G>A (p.Trp335Ter) (rs1554100509)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000578899 SCV000681129 likely pathogenic not provided 2017-11-24 criteria provided, single submitter clinical testing The W295X variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to ourknowledge. The W295X variant is not observed in large population cohorts (Lek et al., 2016). TheW295X nonsense variant in the GABRG2 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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