ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.1891del (p.Val631fs)

dbSNP: rs2114241031
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001905110 SCV002130245 pathogenic Peroxisome biogenesis disorder 2023-08-17 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: 1363836). This premature translational stop signal has been observed in individual(s) with Zellweger spectrum disorders (PMID: 28857144). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val631Trpfs*2) in the PEX6 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PEX6 are known to be pathogenic (PMID: 10408779, 21031596, 31831025).
Baylor Genetics RCV004571447 SCV005055276 pathogenic Heimler syndrome 2 2024-01-24 criteria provided, single submitter clinical testing

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