ClinVar Miner

Submissions for variant NM_000288.4(PEX7):c.400G>A (p.Asp134Asn)

dbSNP: rs764346452
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169000 SCV000220139 likely pathogenic Rhizomelic chondrodysplasia punctata type 1 2014-03-02 criteria provided, single submitter literature only
Baylor Genetics RCV003474894 SCV004203898 likely pathogenic Peroxisome biogenesis disorder 9B 2023-09-07 criteria provided, single submitter clinical testing
GeneDx RCV004700520 SCV005201833 pathogenic not provided 2023-11-13 criteria provided, single submitter clinical testing Published functional studies found this variant was associated with impaired PTS2-mediated peroxisomal protein import (PMID: 11781871); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 31751594, 11781871)

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