ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.4175_4176del (p.Thr1392fs)

dbSNP: rs754282574
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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 RCV001385186 SCV001584950 pathogenic not provided 2022-03-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with TUBGCP6-related conditions. This variant is present in population databases (rs754282574, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Thr1392Serfs*10) 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).

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