ClinVar Miner

Submissions for variant NM_014444.5(TUBGCP4):c.778C>T (p.Arg260Ter)

dbSNP: rs755174583
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001262459 SCV001440348 likely pathogenic Microcephaly and chorioretinopathy 3 2019-01-01 criteria provided, single submitter clinical testing This variant was identified as compound heterozygous.
Labcorp Genetics (formerly Invitae), Labcorp RCV002541593 SCV003474309 pathogenic not provided 2024-01-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg260*) in the TUBGCP4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TUBGCP4 are known to be pathogenic (PMID: 25817018). This variant is present in population databases (rs755174583, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with TUBGCP4-related conditions. ClinVar contains an entry for this variant (Variation ID: 982788). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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