ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.472+1G>A

dbSNP: rs762852144
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668226 SCV000792794 likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger) 2017-07-14 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV003338727 SCV004047640 likely pathogenic Peroxisome biogenesis disorder 1B criteria provided, single submitter clinical testing The c.472+1G>A splice site variant has been submitted to ClinVar as a Likely Pathogenic variant, but no details are available for independent assessment. It has not been reported in affected individuals. The c.472+1G>A variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic. In the absence of another heterozygous variant / CNV, molecular diagnosis is not confirmed.

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