ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.3090_3091del (p.Gly1032fs)

gnomAD frequency: 0.00003  dbSNP: rs1491234697
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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 RCV001384129 SCV001583514 pathogenic not provided 2022-12-30 criteria provided, single submitter clinical testing This variant is present in population databases (rs796321813, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Gly1032Trpfs*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). This variant has not been reported in the literature in individuals affected with TUBGCP6-related conditions. ClinVar contains an entry for this variant (Variation ID: 1071616). For these reasons, this variant has been classified as Pathogenic.

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