ClinVar Miner

Submissions for variant NM_000116.5(TAFAZZIN):c.773C>T (p.Ser258Leu)

dbSNP: rs2068606445
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001359374 SCV001555238 uncertain significance 3-Methylglutaconic aciduria type 2 2024-04-25 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 258 of the TAZ protein (p.Ser258Leu). 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: 1051351). 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 tolerated. 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.
GeneDx RCV004779094 SCV005389134 uncertain significance not provided 2024-03-04 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004995705 SCV005518065 uncertain significance Cardiovascular phenotype 2024-08-22 criteria provided, single submitter clinical testing The p.S258L variant (also known as c.773C>T), located in coding exon 10 of the TAZ gene, results from a C to T substitution at nucleotide position 773. The serine at codon 258 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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