ClinVar Miner

Submissions for variant NM_000116.5(TAFAZZIN):c.758G>A (p.Arg253Gln)

gnomAD frequency: 0.00003  dbSNP: rs782653725
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000216620 SCV000279286 likely benign not provided 2019-11-22 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31094706)
Invitae RCV000695963 SCV000824504 uncertain significance 3-Methylglutaconic aciduria type 2 2022-09-20 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 253 of the TAZ protein (p.Arg253Gln). This variant is present in population databases (rs782653725, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with TAZ-related conditions. ClinVar contains an entry for this variant (Variation ID: 234467). 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769551 SCV000900947 uncertain significance Cardiomyopathy 2016-08-16 criteria provided, single submitter clinical testing

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