ClinVar Miner

Submissions for variant NM_000116.5(TAFAZZIN):c.227C>T (p.Pro76Leu)

dbSNP: rs878853654
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001222821 SCV001394938 uncertain significance 3-Methylglutaconic aciduria type 2 2019-04-09 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 76 of the TAZ protein (p.Pro76Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TAZ-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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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