ClinVar Miner

Submissions for variant NM_000353.3(TAT):c.578C>A (p.Ser193Tyr)

gnomAD frequency: 0.00004  dbSNP: rs142154262
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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 RCV000824178 SCV000965064 uncertain significance Tyrosinemia type II 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces serine with tyrosine at codon 193 of the TAT protein (p.Ser193Tyr). The serine residue is moderately conserved and there is a large physicochemical difference between serine and tyrosine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with TAT-related conditions. 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). 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.

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