ClinVar Miner

Submissions for variant NM_007055.4(POLR3A):c.1909+22G>A (rs191875469)

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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 RCV000514925 SCV000610762 pathogenic not provided 2017-06-02 criteria provided, single submitter clinical testing
Tartaglia Lab, Genetics and Rare Diseases Research Division,Bambino Gesu' Children's Hospital RCV000754390 SCV000786641 likely pathogenic Neonatal pseudo-hydrocephalic progeroid syndrome 2018-05-01 criteria provided, single submitter research
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000754390 SCV000930453 uncertain significance Neonatal pseudo-hydrocephalic progeroid syndrome 2019-04-27 criteria provided, single submitter clinical testing
GeneDx RCV000514925 SCV001134970 pathogenic not provided 2019-10-29 criteria provided, single submitter clinical testing Identified in multiple unrelated patients with POLR3A-related disorders tested at GeneDx and in the published literature who had different pathogenic variants on the opposite allele (La Piana et al., 2016; Minnerop et al., 2017; Travaglini et al., 2018) Functional studies suggest this variant generates a "leaky" cryptic donor site that results in the inclusion of part of intron 14 (Minnerop et al., 2017) In silico analysis, which includes splice predictors and evolutionary conservation, supports a deleterious effect Observed in 0.1365% (386/282828 alleles) in large population cohorts (Lek et al., 2016).
Mendelics RCV000988394 SCV001138096 pathogenic Hypomyelinating leukodystrophy 7 2019-05-28 criteria provided, single submitter clinical testing

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