ClinVar Miner

Submissions for variant NM_007055.4(POLR3A):c.2616+1G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology RCV003986006 SCV004801832 likely pathogenic Neonatal pseudo-hydrocephalic progeroid syndrome; Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome criteria provided, single submitter clinical testing A previously undescribed nucleotide variant creates an alteration of the canonical splice site c.2616+1G>A in the POLR3A gene. The variant was observed in presumably compound heterozygous state with a known pathogenic variant (phase not tested) in an individual affected with neurodegenerative disease and muscular dystonia. Homozygous and compound heterozygous variants are reported in patients with Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694, Wiedemann-Rautenstrauch syndrome, 264090. The variant is not present in population database (gnomAD no frequency). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as likely pathogenic.

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