ClinVar Miner

Submissions for variant NM_000116.5(TAFAZZIN):c.29C>G (p.Pro10Arg)

dbSNP: rs781941217
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Klaassen Lab, Charite University Medicine Berlin RCV000853160 SCV000995874 uncertain significance Left ventricular noncompaction cardiomyopathy 2019-07-03 criteria provided, single submitter research
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV001169982 SCV001251747 uncertain significance 3-Methylglutaconic aciduria type 2 2020-05-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002275161 SCV002564139 uncertain significance not provided 2019-06-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001169982 SCV003818959 uncertain significance 3-Methylglutaconic aciduria type 2 2021-03-04 criteria provided, single submitter clinical testing
Invitae RCV001169982 SCV004666646 uncertain significance 3-Methylglutaconic aciduria type 2 2023-08-08 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 10 of the TAZ protein (p.Pro10Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with cardiomyopathy (PMID: 31568572). ClinVar contains an entry for this variant (Variation ID: 691831). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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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