ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.1131del (p.Asp378fs)

dbSNP: rs886043479
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725900 SCV000340360 pathogenic not provided 2016-03-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001855178 SCV002229478 pathogenic Zellweger spectrum disorders 2021-10-31 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 286796). This sequence change creates a premature translational stop signal (p.Asp378Metfs*9) 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: 9398847, 16086329, 16141001, 21031596, 26387595, 31831025). This variant is present in population databases (no rsID available, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with PEX1-related conditions. For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000725900 SCV003927727 likely pathogenic not provided 2022-11-28 criteria provided, single submitter clinical testing 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); Has not been previously published as pathogenic or benign to our knowledge
Counsyl RCV000317622 SCV000794955 likely pathogenic Peroxisome biogenesis disorder 1B 2017-10-23 no assertion criteria provided clinical testing

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