ClinVar Miner

Submissions for variant NM_000360.4(TH):c.1430G>A (p.Arg477His)

gnomAD frequency: 0.00001  dbSNP: rs78426052
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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 RCV001271303 SCV000948788 uncertain significance Autosomal recessive DOPA responsive dystonia 2024-08-30 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 508 of the TH protein (p.Arg508His). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 652994). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The histidine 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. RCV001271303 SCV001452381 uncertain significance Autosomal recessive DOPA responsive dystonia 2020-03-10 no assertion criteria provided clinical testing

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