ClinVar Miner

Submissions for variant NM_000360.4(TH):c.110G>A (p.Arg37His)

gnomAD frequency: 0.00005  dbSNP: rs368122376
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198753 SCV001369748 uncertain significance Autosomal recessive DOPA responsive dystonia 2018-09-28 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2,PP3.
Labcorp Genetics (formerly Invitae), Labcorp RCV001198753 SCV002191315 uncertain significance Autosomal recessive DOPA responsive dystonia 2022-10-31 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 68 of the TH protein (p.Arg68His). This variant is present in population databases (rs368122376, gnomAD 0.01%). 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: 455993). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on TH 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. RCV001198753 SCV002089694 uncertain significance Autosomal recessive DOPA responsive dystonia 2019-11-11 no assertion criteria provided clinical testing

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