ClinVar Miner

Submissions for variant NM_003846.3(PEX11B):c.595C>T (p.Arg199Ter)

gnomAD frequency: 0.00001  dbSNP: rs781984979
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV000537988 SCV000622171 pathogenic Peroxisome biogenesis disorder 14B 2016-06-26 criteria provided, single submitter clinical testing
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV000537988 SCV002769444 likely pathogenic Peroxisome biogenesis disorder 14B 2020-05-25 criteria provided, single submitter clinical testing Based on the classification scheme VCGS_Germline_v1.1.1, this variant is classified as likely pathogenic. Following criteria are met: 0102 - Loss-of-function is a known mechanism of disease for this gene. (N) 0106 - This gene is known to be associated with autosomal recessive disease. (N) 0205 - Variant is predicted to result in a truncated protein with less than 1/3 of the protein affected. (P) 0252 - Variant is homozygous. (N) 0304 - Variant is present in gnomAD <0.01 for a recessive condition (2 heterozygotes, 0 homozygotes). (P) 0601 - Variant results in the loss of the C-terminal of the well-established (essential) PEX11 domain. Functional studies show the C-terminal is important for interactions with PEX19 (PMID:10704444) and removing this region (p.230-255) resulted in impaired PEX11γ and Fis1 binding (PMID:20826455). (P) 0705 - A downstream comparable variant (p.Arg256*) was classified as a VUS (ClinVar). (N) 0803 - Low previous evidence of pathogenicity in a single family with peroxisome biogenesis disorder (PMID:28129423). (P) 0903 - Low evidence for segregation with disease in two compound heterozygous siblings (PMID:28129423). (N) 1007 - No published functional evidence has been identified for this variant. (N) 1205 - Variant is maternally inherited. (N) 1206 - Variant is paternally inherited. (N) Legend: (P) - Pathogenic, (N) - Neutral, (B) - Benign

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