ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.3820C>T (p.Pro1274Ser)

gnomAD frequency: 0.00003  dbSNP: rs200372449
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001352111 SCV001546638 uncertain significance not provided 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 1274 of the TUBGCP6 protein (p.Pro1274Ser). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and serine. This variant is present in population databases (rs200372449, ExAC 0.003%). This variant has not been reported in the literature in individuals affected with TUBGCP6-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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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