ClinVar Miner

Submissions for variant NM_007055.4(POLR3A):c.1771-7C>G (rs201314157)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522489 SCV000617835 likely pathogenic not provided 2017-08-29 criteria provided, single submitter clinical testing The c.1771-7C>G variant in the POLR3A gene has been reported previously in the homozygous state in at least five individuals with spastic ataxia from three unrelated families (Minnerop et al., 2017). This variant has been observed with a loss-of-function variant on the opposite allele in several individuals referred for clinical exome sequencing at GeneDx. This variant is predicted to damage the splice acceptor site in intron 13, and is expected to cause abnormal gene splicing. Supporting this effect, cDNA studies of individuals homozygous for the c.1771-7C>G variant revealed the presence of both the wild-type transcript and abnormal transcripts lacking either exons 13 and 14 or just exon 14 (Minnerop et al., 2017). The c.1771-7C>G variant is observed in 14/66,740 (0.021%) alleles from individuals of European (non-Finnish) background in the ExAC dataset (Lek et al., 2016). We interpret c.1771-7C>G as a likely pathogenic variant.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000522489 SCV000692692 pathogenic not provided 2019-11-01 criteria provided, single submitter clinical testing
Undiagnosed Diseases Network,NIH RCV000787963 SCV000926986 uncertain significance Hypomyelinating leukodystrophy 7 2019-01-30 criteria provided, single submitter clinical testing
MyeliNeuroGene Lab,McGill University Health Center Research Institute RCV000787963 SCV000987277 pathogenic Hypomyelinating leukodystrophy 7 criteria provided, single submitter research
Institute of Human Genetics, Klinikum rechts der Isar RCV000787963 SCV001150222 pathogenic Hypomyelinating leukodystrophy 7 2018-11-05 criteria provided, single submitter clinical testing
Centogene AG - the Rare Disease Company RCV000787963 SCV001426544 pathogenic Hypomyelinating leukodystrophy 7 criteria provided, single submitter clinical testing
Pathology and Clinical Laboratory Medicine,King Fahad Medical City RCV000787963 SCV001438871 uncertain significance Hypomyelinating leukodystrophy 7 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000522489 SCV001447405 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Kasturba Medical College, Manipal University RCV001290309 SCV001478356 likely pathogenic Neonatal pseudo-hydrocephalic progeroid syndrome 2019-05-12 criteria provided, single submitter clinical testing
Baylor Genetics RCV000787963 SCV001521992 pathogenic Hypomyelinating leukodystrophy 7 2020-07-08 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Centre for Inherited Metabolic Diseases, Karolinska University Hospital RCV000787963 SCV001571373 pathogenic Hypomyelinating leukodystrophy 7 2021-04-12 criteria provided, single submitter clinical testing
Section for Clinical Neurogenetics,University of Tübingen RCV000787963 SCV001156098 pathogenic Hypomyelinating leukodystrophy 7 2019-08-01 no assertion criteria provided research

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