ClinVar Miner

Submissions for variant NM_000116.5(TAFAZZIN):c.238G>A (p.Gly80Arg)

dbSNP: rs1557191170
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000637296 SCV000758746 pathogenic 3-Methylglutaconic aciduria type 2 2023-05-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant is associated with altered splicing resulting in multiple RNA products (PMID: 24342716). Experimental studies have shown that this variant affects TAZ function (PMID: 21300850). 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: 531184). This variant has been observed in individual(s) with Barth syndrome (PMID: 24342716). This variant is not present in population databases (gnomAD no frequency). This sequence change affects codon 80 of the TAZ mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the TAZ protein. This variant also falls at the last nucleotide of exon 2, which is part of the consensus splice site for this exon.
Molecular Diagnostics Lab, Nemours Children's Health, Delaware RCV000637296 SCV003935938 likely pathogenic 3-Methylglutaconic aciduria type 2 2020-07-22 criteria provided, single submitter clinical testing

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