ClinVar Miner

Submissions for variant NM_007055.4(POLR3A):c.601del (p.Ile201fs) (rs777280350)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MyeliNeuroGene Lab,McGill University Health Center Research Institute RCV000845270 SCV000987275 pathogenic Hypomyelinating leukodystrophy 7 criteria provided, single submitter research
GeneDx RCV001009158 SCV001168974 pathogenic not provided 2018-12-06 criteria provided, single submitter clinical testing The c.601delA variant in the POLR3A gene has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.601delA variant causes a frameshift starting with codon Isoleucine 201, changes this amino acid to a Leucine residue and creates a premature Stop codon at position 18 of the new reading frame, denoted p.Ile201LeufsX18. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Furthermore, the c.601delA variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret c.601delA as a pathogenic variant.
Institute of Human Genetics, Klinikum rechts der Isar RCV000845270 SCV001150224 pathogenic Hypomyelinating leukodystrophy 7 2018-11-23 no assertion criteria provided clinical testing

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