Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000413750 | SCV000491315 | likely pathogenic | not provided | 2016-03-12 | criteria provided, single submitter | clinical testing | The M852V variant in the POLR3A gene has been reported previously in several individuals with leukodystrophy, hypogonadotropic hypogonadism, and dental anomalies (Bernard et al., 2011; Terao et al., 2012; Daoud et al., 2013; Wolf et al., 2014). This variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common variant in these populations. The M852V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, this substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. The M852V variant is a strong candidate for a pathogenic variant. |
OMIM | RCV000024141 | SCV000045432 | pathogenic | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | 2011-09-09 | no assertion criteria provided | literature only | |
Gene |
RCV000024141 | SCV000055886 | pathogenic | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | 2017-05-11 | no assertion criteria provided | literature only |