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 2024-05-01 criteria provided, single submitter clinical testing TAFAZZIN: PM2
Revvity Omics, Revvity RCV001169982 SCV003818959 uncertain significance 3-Methylglutaconic aciduria type 2 2021-03-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001169982 SCV004666646 uncertain significance 3-Methylglutaconic aciduria type 2 2023-08-08 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 691831). This missense change has been observed in individual(s) with cardiomyopathy (PMID: 31568572). This variant is not present in population databases (gnomAD no frequency). 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).

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