ClinVar Miner

Submissions for variant NM_000116.5(TAFAZZIN):c.28C>T (p.Pro10Ser)

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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 RCV003825311 SCV004621254 uncertain significance 3-Methylglutaconic aciduria type 2 2020-11-11 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Not Available"). This variant has not been reported in the literature in individuals with TAZ-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change replaces proline with serine at codon 10 of the TAZ protein (p.Pro10Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine.

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