ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.1233+1G>A (rs763459576)

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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 RCV000588951 SCV000696483 likely pathogenic Peroxisome biogenesis disorders, Zellweger syndrome spectrum 2016-03-10 criteria provided, single submitter clinical testing Variant summary: The c.1233+1G>A in a PEX6 gene is a splice-site variant that alters a conserved nucleotide. 5/5 in silico tools via Alamut predict this variant to disrupt a canonical donor sequence, however these predictions have yet to be confirmed by functional assay. The variant is absent from ExAC and has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical laboratories. The variant of interest was found in severely affected infant with a clinical dx of Zellweger Syndrome. Taken together, the variant was classified as Likely Pathogenic until additional information becomes available.

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