ClinVar Miner

Submissions for variant NM_198903.2(GABRG2):c.471del (p.Ala158fs) (rs1554097890)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519474 SCV000619359 likely pathogenic not provided 2017-07-26 criteria provided, single submitter clinical testing The c.471delA variant in the GABRG2 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The c.471delA variant causes a frameshift starting with codon Alanine 158, changes this amino acid to a Leucine residue, and creates a premature Stop codon at position 13 of the new reading frame, denoted p.Ala158LeufsX13. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.471delA variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.471delA as a likely pathogenic variant.

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