ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.2364_2365del (p.Phe789Cysfs) (rs755716911)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000780592 SCV000917990 likely pathogenic Peroxisome biogenesis disorders, Zellweger syndrome spectrum 2018-04-06 criteria provided, single submitter clinical testing Variant summary: PEX6 c.2364_2365delGT (p.Phe789CysfsX14) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant allele was found at a frequency of 3.3e-05 in 246072 control chromosomes. This frequency is not higher than expected for a pathogenic variant in PEX6 causing Zellweger Syndrome (3.3e-05 vs 0.0019), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.2364_2365delGT in individuals affected with Zellweger Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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