ClinVar Miner

Submissions for variant NM_000360.4(TH):c.193G>A (p.Gly65Arg)

gnomAD frequency: 0.00001  dbSNP: rs780478399
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001828485 SCV003034987 uncertain significance Autosomal recessive DOPA responsive dystonia 2022-09-19 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 96 of the TH protein (p.Gly96Arg). This variant is present in population databases (rs780478399, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with TH-related conditions. ClinVar contains an entry for this variant (Variation ID: 412032). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Natera, Inc. RCV001828485 SCV002089671 uncertain significance Autosomal recessive DOPA responsive dystonia 2019-11-11 no assertion criteria provided clinical testing

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