ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.3392G>A (p.Trp1131Ter)

dbSNP: rs766653635
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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 RCV001389551 SCV001590946 pathogenic not provided 2020-08-08 criteria provided, single submitter clinical testing This variant is present in population databases (rs766653635, ExAC 0.009%). This sequence change creates a premature translational stop signal (p.Trp1131*) in the TUBGCP6 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in TUBGCP6 are known to be pathogenic (PMID: 25344692). This variant has not been reported in the literature in individuals with TUBGCP6-related conditions.

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