ClinVar Miner

Submissions for variant NM_000288.4(PEX7):c.334C>T (p.Gln112Ter)

dbSNP: rs62653604
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411360 SCV000487296 likely pathogenic Rhizomelic chondrodysplasia punctata type 1 2016-11-10 criteria provided, single submitter clinical testing
Baylor Genetics RCV003475974 SCV004203919 pathogenic Peroxisome biogenesis disorder 9B 2022-04-04 criteria provided, single submitter clinical testing
Invitae RCV003475974 SCV004294418 pathogenic Peroxisome biogenesis disorder 9B 2023-05-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 371661). This variant is also known as 339C>T. This premature translational stop signal has been observed in individual(s) with Rhizomelic Chondrodysplasia Punctata (PMID: 12325024). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln112*) in the PEX7 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PEX7 are known to be pathogenic (PMID: 12325024, 12522768, 20301447).

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