ClinVar Miner

Submissions for variant NM_000360.4(TH):c.1277C>T (p.Thr426Met)

gnomAD frequency: 0.00005  dbSNP: rs201330304
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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 RCV002021563 SCV002314649 uncertain significance Autosomal recessive DOPA responsive dystonia 2022-09-07 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 457 of the TH protein (p.Thr457Met). This variant is present in population databases (rs201330304, gnomAD 0.1%), including at least one homozygous and/or hemizygous individual. 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: 1518193). 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: "Possibly Damaging"; 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.
Mayo Clinic Laboratories, Mayo Clinic RCV004793711 SCV005412273 uncertain significance not provided 2024-08-29 criteria provided, single submitter clinical testing PM2

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