ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.1894G>C (p.Glu632Gln) (rs199582514)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622416 SCV000741739 uncertain significance Inborn genetic diseases 2016-11-12 criteria provided, single submitter clinical testing
Invitae RCV001247679 SCV001421116 uncertain significance not provided 2019-10-15 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with glutamine at codon 632 of the TUBGCP6 protein (p.Glu632Gln). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and glutamine. This variant is present in population databases (rs199582514, ExAC 0.03%). 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.
Baylor Genetics RCV001329145 SCV001520485 uncertain significance Microcephaly and chorioretinopathy, autosomal recessive, 1 2019-07-09 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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