Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Myriad Genetics, |
RCV002309019 | SCV002602089 | likely pathogenic | Autosomal recessive DOPA responsive dystonia | 2022-03-17 | criteria provided, single submitter | clinical testing | NM_199292.2(TH):c.384_385delCC(R129Sfs*6) is expected to be pathogenic in the context of tyrosine hydroxylase deficiency. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in TH, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening. |