ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.5276del (p.Pro1759fs)

dbSNP: rs746218503
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002041592 SCV002114334 uncertain significance not provided 2021-07-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro1759Leufs*33) in the TUBGCP6 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 61 amino acid(s) of the TUBGCP6 protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals affected with TUBGCP6-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
MGZ Medical Genetics Center RCV002290775 SCV002580399 likely pathogenic Microcephaly and chorioretinopathy 1 2021-10-04 criteria provided, single submitter clinical testing

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