ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.1941C>A (p.Cys647Ter)

gnomAD frequency: 0.00003  dbSNP: rs781475201
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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 RCV000698404 SCV000827065 pathogenic Peroxisome biogenesis disorder 2023-06-15 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: 576022). This variant has not been reported in the literature in individuals affected with PEX6-related conditions. This variant is present in population databases (rs781475201, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Cys647*) 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: 8670792, 19877282, 21031596).
Baylor Genetics RCV003472225 SCV004201527 likely pathogenic Heimler syndrome 2 2023-10-11 criteria provided, single submitter clinical testing

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