ClinVar Miner

Submissions for variant NM_000360.4(TH):c.91-892C>T

gnomAD frequency: 0.00001  dbSNP: rs775961364
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664631 SCV000788628 uncertain significance Autosomal recessive DOPA responsive dystonia 2017-12-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000664631 SCV002793679 uncertain significance Autosomal recessive DOPA responsive dystonia 2021-07-27 criteria provided, single submitter clinical testing
Invitae RCV000664631 SCV003010042 uncertain significance Autosomal recessive DOPA responsive dystonia 2022-09-27 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 37 of the TH protein (p.Pro37Leu). 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: 550015). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine 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.
Ambry Genetics RCV002530633 SCV003591116 uncertain significance Inborn genetic diseases 2021-12-06 criteria provided, single submitter clinical testing The c.110C>T (p.P37L) alteration is located in exon 2 (coding exon 2) of the TH gene. This alteration results from a C to T substitution at nucleotide position 110, causing the proline (P) at amino acid position 37 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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