ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.721del (p.Ser241fs)

gnomAD frequency: 0.00003  dbSNP: rs894289737
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001066600 SCV001231615 pathogenic Zellweger spectrum disorders 2023-09-03 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 591770). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with PEX1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser241Glnfs*2) in the PEX1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PEX1 are known to be pathogenic (PMID: 21031596, 26387595, 31831025).
Baylor Genetics RCV003472259 SCV004203270 likely pathogenic Heimler syndrome 1 2023-10-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005036036 SCV005669736 likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger); Heimler syndrome 1; Peroxisome biogenesis disorder 1B 2024-04-04 criteria provided, single submitter clinical testing
GeneDx RCV000722952 SCV005874938 likely pathogenic not provided 2024-08-28 criteria provided, single submitter clinical testing Reported in a patient with retinitis pigmentosa who also harbored an apparently homozygous variant in the CERKL gene that may have been responsible for the phenotype (PMID: 35318874); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 35318874)
Gharavi Laboratory, Columbia University RCV000722952 SCV000854083 uncertain significance not provided 2018-09-16 no assertion criteria provided research

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