ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.4724_4725insT (p.His1576fs)

dbSNP: rs2147172866
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002025387 SCV002274620 uncertain significance not provided 2021-10-20 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change results in a frameshift in the TUBGCP6 gene (p.His1576Alafs*255). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 244 amino acid(s) of the TUBGCP6 protein and extend the protein by 10 additional amino acid residues. This variant has not been reported in the literature in individuals affected with TUBGCP6-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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