ClinVar Miner

Submissions for variant NM_153818.1(PEX10):c.790C>T (p.Arg264Ter) (rs61752092)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666851 SCV000791212 pathogenic Peroxisome biogenesis disorder 6A; Peroxisome biogenesis disorder 6B 2017-05-04 criteria provided, single submitter clinical testing
Invitae RCV001208724 SCV001380129 pathogenic Peroxisome biogenesis disorder, complementation group 7 2019-10-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg264*) in the PEX10 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs61752092, ExAC 0.01%). This variant has been observed in individuals affected with peroxisomal biogenesis disorders (PMID: 15542397, 20695019, 17041890, 19105186, 27230853). This variant is also known as Arg244* in the literature. ClinVar contains an entry for this variant (Variation ID: 162435). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Loss-of-function variants in PEX10 are known to be pathogenic (PMID: 9683594, 10862081, 21031596). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000149813 SCV000196637 pathogenic Peroxisome biogenesis disorder 6B 2010-08-01 no assertion criteria provided literature only
OMIM RCV000677268 SCV000803401 pathogenic Peroxisome biogenesis disorder 6A 2018-08-13 no assertion criteria provided literature only

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