ClinVar Miner

Submissions for variant NM_016194.4(GNB5):c.348_352del (p.Asp116fs) (rs1085307675)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000490230 SCV000577009 pathogenic not provided 2017-04-12 criteria provided, single submitter clinical testing The c.348_352delTAAGA pathogenic variant in the GNB5 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant causes a frameshift starting with codon Aspartic acid 116, changes this amino acid to a Glutamic acid residue, and creates a premature Stop codon at position 52 of the new reading frame, denoted p.Asp116GlufsX52. The c.348_352delTAAGA variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. It is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.348_352delTAAGA as a pathogenic variant.
GenomeConnect, ClinGen RCV000709973 SCV000840337 not provided Intellectual developmental disorder with cardiac arrhythmia; Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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