ClinVar Miner

Submissions for variant NM_000116.5(TAFAZZIN):c.583G>A (p.Gly195Arg)

dbSNP: rs878853656
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000230961 SCV000283514 uncertain significance 3-Methylglutaconic aciduria type 2 2016-03-05 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 195 of the TAZ protein (p.Gly195Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. It also falls at the last nucleotide of exon 7 of the TAZ coding sequence. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a TAZ-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). Nucleotide substitutions at the last nucleotide of an exon are relatively common causes of aberrant splicing (PMID: 17576681), but according to multiple splice site algorithms, this variant is not predicted to significantly affect splicing. These predictions have not been confirmed by published functional studies. In summary, this variant is a novel missense change with uncertain impact on protein function and splicing. It has been classified as a Variant of Uncertain Significance.

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