ClinVar Miner

Submissions for variant NM_007055.4(POLR3A):c.1909+18G>A

dbSNP: rs267608677
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224081 SCV000280973 pathogenic not provided 2016-01-08 criteria provided, single submitter clinical testing
Tartaglia Lab, Genetics and Rare Diseases Research Division,Bambino Gesu' Children's Hospital RCV000754389 SCV000786640 likely pathogenic Neonatal pseudo-hydrocephalic progeroid syndrome 2018-05-01 criteria provided, single submitter research
Invitae RCV000224081 SCV002247268 pathogenic not provided 2021-10-10 criteria provided, single submitter clinical testing This sequence change falls in intron 14 of the POLR3A gene. It does not directly change the encoded amino acid sequence of the POLR3A protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with leukodystrophy with oligodontia and/or Wiedemann–Rautenstrauch syndrome (PMID: 21855841, 27612211). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. This variant is also known as c.2003+18G>A and c.1911+18C>T. ClinVar contains an entry for this variant (Variation ID: 31144). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000024140 SCV000045431 pathogenic Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome 2011-09-09 no assertion criteria provided literature only
GeneReviews RCV000024140 SCV000055884 pathogenic Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome 2017-05-11 no assertion criteria provided literature only

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