ClinVar Miner

Submissions for variant NM_007055.4(POLR3A):c.2471A>C (p.His824Pro) (rs1564617866)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia RCV000722140 SCV000845210 likely pathogenic Leukodystrophy, hypomyelinating, 4 2018-10-29 criteria provided, single submitter research The variant NM_007055.3:c.2471A>C in the POLR3A gene has not been previously reported in public databases. This variant was identified in a patient diagnosed with 4H leukodystrophy, an alteration typically characterized by the triad of hypomyelination, hypodontia, and hypogonadotropic hypogonadism caused by mutations in POLR3A or POLR3B. We consider that this variant is probably pathogenic because it is found in a coding and critical region for the correct expression of this gene; besides that other variants have been reported in nearby regions of the gene in patients with 4H leukodystrophy (Bernard et al., 2017).

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