ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.589T>C (p.Ser197Pro) (rs138586345)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000997946 SCV001153722 uncertain significance not provided 2016-12-01 criteria provided, single submitter clinical testing
Invitae RCV000997946 SCV001232598 uncertain significance not provided 2020-10-19 criteria provided, single submitter clinical testing This sequence change replaces serine with proline at codon 197 of the TUBGCP6 protein (p.Ser197Pro). The serine residue is weakly conserved and there is a moderate physicochemical difference between serine and proline. This variant is present in population databases (rs138586345, ExAC 0.2%). This variant has not been reported in the literature in individuals with TUBGCP6-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: Tolerated; PolyPhen-2: Probably Damaging; Align-GVGD: Class C0). 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.
GenomeConnect - Invitae Patient Insights Network RCV001535501 SCV001749454 not provided Microcephaly and chorioretinopathy, autosomal recessive, 1 no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 11-05-2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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