ClinVar Miner

Submissions for variant NM_000116.5(TAFAZZIN):c.334T>C (p.Phe112Leu)

dbSNP: rs1281729528
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001363829 SCV001559957 uncertain significance 3-Methylglutaconic aciduria type 2 2023-12-11 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 112 of the TAZ protein (p.Phe112Leu). This variant is not present in population databases (gnomAD no frequency). 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: 1055193). 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.
Johns Hopkins Genomics, Johns Hopkins University RCV001363829 SCV003839113 uncertain significance 3-Methylglutaconic aciduria type 2 2022-12-14 criteria provided, single submitter clinical testing This TAZ missense variant is absent from a large population dataset. It has been reported in ClinVar (Variation ID 1055193), but has not been reported in the literature, to our knowledge. Two bioinformatic tools queried predict that this substitution would be damaging, and the phenylalanine residue at this position is evolutionarily conserved across all of the species assessed. We consider the clinical significance of c.334T>C; p.Phe112Leu in TAZ to be uncertain at this time.

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