ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.2155C>T (p.Arg719Ter)

gnomAD frequency: 0.00001  dbSNP: rs776065095
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001783994 SCV002021567 likely pathogenic Microcephaly and chorioretinopathy 1 2021-06-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002541218 SCV003227244 pathogenic not provided 2022-09-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg719*) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1325319). This variant has not been reported in the literature in individuals affected with TUBGCP6-related conditions. This variant is present in population databases (rs776065095, gnomAD 0.006%).

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