ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.3893dup (p.Gly1299fs) (rs760024638)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413241 SCV000491535 likely pathogenic not provided 2016-06-30 criteria provided, single submitter clinical testing The c.3893dupC variant in the TUBGCP6 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.3893dupC variant causes a frameshift starting with codon Glycine 1299, changes this amino acid to a Tryptophan residue, and creates a premature Stop codon at position 69 of the new reading frame, denoted p.Gly1299TrpfsX69. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.3893dupC variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The c.3893dupC variant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded.

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