ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.2714G>T (p.Cys905Phe)

dbSNP: rs886037782
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Leeds Amelogenesis Imperfecta Research Group, University of Leeds RCV000240788 SCV000264805 pathogenic Heimler syndrome 2 2015-10-01 criteria provided, single submitter research Newly identified
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004800337 SCV005422712 uncertain significance not specified 2024-10-18 criteria provided, single submitter clinical testing Variant summary: PEX6 c.2714G>T (p.Cys905Phe) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251476 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.2714G>T has been reported in the presumed compound heterozygous state in the literature in at least 1 individual affected with clinical features of Zellweger Syndrome (example, Smith_2016). These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 27302843). ClinVar contains an entry for this variant (Variation ID: 224322). Based on the evidence outlined above, the variant was classified as uncertain significance.

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