ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.3898C>T (p.His1300Tyr) (rs148601529)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503044 SCV000597749 uncertain significance not specified 2016-10-13 criteria provided, single submitter clinical testing
Invitae RCV001071558 SCV001236867 uncertain significance not provided 2020-10-08 criteria provided, single submitter clinical testing This sequence change replaces histidine with tyrosine at codon 1300 of the TUBGCP6 protein (p.His1300Tyr). The histidine residue is weakly conserved and there is a moderate physicochemical difference between histidine and tyrosine. This variant is present in population databases (rs148601529, ExAC 0.1%). This variant has not been reported in the literature in individuals with TUBGCP6-related conditions. ClinVar contains an entry for this variant (Variation ID: 437146). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Tolerated; PolyPhen-2: Possibly 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.

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