ClinVar Miner

Submissions for variant NM_000286.3(PEX12):c.886_887CT[1] (p.Leu297fs) (rs398123301)

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Total submissions: 6
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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 RCV000078563 SCV000510758 pathogenic not provided 2017-01-10 criteria provided, single submitter clinical testing
Counsyl RCV000410739 SCV000487682 pathogenic Infantile Refsum's disease 2016-10-21 criteria provided, single submitter clinical testing
Counsyl RCV000412263 SCV000487683 pathogenic Peroxisome biogenesis disorder 3A 2016-10-21 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078563 SCV000110419 pathogenic not provided 2018-02-16 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586945 SCV000696482 pathogenic Peroxisome biogenesis disorders, Zellweger syndrome spectrum 2016-07-21 criteria provided, single submitter clinical testing Variant summary: The PEX12 c.888_889delCT (p.Leu297Thrfs) variant results in a premature termination codon, predicted to cause a truncated or absent PEX12 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. One in silico tool predicts a damaging outcome for this variant. This variant was found in 8/121406 control chromosomes at a frequency of 0.0000659, which does not exceed the estimated maximal expected allele frequency of a pathogenic PEX12 variant (0.0015811). The variant has been identified in multiple affected individuals in heterozygous and homozygous state. In addition, one clinical diagnostic laboratory classified this variant as pathogenic. Taken together, this variant is classified as pathogenic.
OMIM RCV000412263 SCV000494456 pathogenic Peroxisome biogenesis disorder 3A 1998-11-01 no assertion criteria provided literature only

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