ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.2066-6A>G (rs368765755)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503770 SCV000597772 uncertain significance not specified 2016-11-23 criteria provided, single submitter clinical testing
GeneDx RCV000766995 SCV000680586 uncertain significance not provided 2017-12-13 criteria provided, single submitter clinical testing The c.2066-6A>G variant in the TUBGCP6 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. In-silico splice models predict that c.2066-6A>G may create a cryptic splice acceptor site in intron 11 that could supplant the natural splice acceptor site. However, in the absence of RNA/functional studies, the actual effect of the c.2066-6A>G change in this individual is unknown. The c.2066-6A>G variant is observed in 15/246,266 alleles in large population cohorts and no individuals were reported to be homozygous (Lek et al., 2016). We interpret c.2066-6A>G as a variant of uncertain significance.
Fulgent Genetics,Fulgent Genetics RCV000765655 SCV000896985 uncertain significance Microcephaly and chorioretinopathy, autosomal recessive, 1 2018-10-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000766995 SCV001249566 pathogenic not provided 2019-10-01 criteria provided, single submitter clinical testing
Invitae RCV000766995 SCV001493483 uncertain significance not provided 2020-08-19 criteria provided, single submitter clinical testing This sequence change falls in intron 11 of the TUBGCP6 gene. It does not directly change the encoded amino acid sequence of the TUBGCP6 protein. This variant is present in population databases (rs368765755, ExAC 0.02%). This variant has been observed in individual(s) with clinical features of microcephaly and chorioretinopathy (PMID: 31077665). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 437169). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 31077665). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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