ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.654C>G (p.Phe218Leu)

dbSNP: rs886037779
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Leeds Amelogenesis Imperfecta Research Group, University of Leeds RCV000240712 SCV000264801 pathogenic Heimler syndrome 2 2015-10-01 criteria provided, single submitter research Newly identified
Counsyl RCV000675085 SCV000800593 uncertain significance Peroxisome biogenesis disorder 4A (Zellweger); Peroxisome biogenesis disorder 4B 2017-09-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004689680 SCV005185244 uncertain significance not specified 2024-05-20 criteria provided, single submitter clinical testing Variant summary: PEX6 c.654C>G (p.Phe218Leu) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4e-06 in 251178 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.654C>G has been reported in the literature in at-least one individual affected with Heimler 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: 224318). Based on the evidence outlined above, the variant was classified as uncertain significance.

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