ClinVar Miner

Submissions for variant NM_198903.2(GABRG2):c.1337_1338del (p.Gln446fs) (rs1554101202)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520177 SCV000620210 likely pathogenic not provided 2017-08-23 criteria provided, single submitter clinical testing The c.1193_1194delAA variant in the GABRG2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1193_1194delAA variant causes a frameshift starting with codon Glutamine 398, changes this amino acid to an Arginine residue, and creates a premature Stop codon at position 4 of the new reading frame, denoted p.Gln398ArgfsX4. This variant is predicted to cause loss of normal protein function through protein truncation as the last 70 amino acids of the protein are lost and replaced with 3 incorrect amino acids. The c.1193_1194delAA variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.1193_1194delAA as a likely pathogenic variant.

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