ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.1314del (p.Arg438fs) (rs1427049971)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001009014 SCV001168823 likely pathogenic not provided 2018-08-22 criteria provided, single submitter clinical testing The c.1314delG variant in the TUBGCP6 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1314delG variant causes a frameshift starting with codon Arginine 438, changes this amino acid to a Serine residue, and creates a premature Stop codon at position 17 of the new reading frame, denoted p.Arg438SerfsX17. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1314delG variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.1314delG as a likely pathogenic variant.

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