ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.4165_4166del (p.Gln1389fs)

dbSNP: rs752869602
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002007565 SCV002234820 pathogenic not provided 2024-03-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1389Glyfs*13) in the TUBGCP6 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TUBGCP6 are known to be pathogenic (PMID: 25344692). This variant is present in population databases (rs752869602, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with TUBGCP6-related conditions. For these reasons, this variant has been classified as Pathogenic.
Daryl Scott Lab, Baylor College of Medicine RCV005256834 SCV005911576 pathogenic Microcephaly and chorioretinopathy 1 2024-04-01 criteria provided, single submitter clinical testing PVS1, PM2, PM3, PP1

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