ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.5112del (p.Asp1705fs)

gnomAD frequency: 0.00002  dbSNP: rs764772232
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001531984 SCV001747346 uncertain significance not provided 2021-04-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001531984 SCV004635179 pathogenic not provided 2023-04-30 criteria provided, single submitter clinical testing This variant is present in population databases (rs764772232, gnomAD 0.003%). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1176448). This variant has not been reported in the literature in individuals affected with TUBGCP6-related conditions. This sequence change creates a premature translational stop signal (p.Asp1705Thrfs*30) 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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