ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.2082del (p.Gly695fs)

dbSNP: rs766483138
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668636 SCV000793270 likely pathogenic Peroxisome biogenesis disorder 4A (Zellweger); Peroxisome biogenesis disorder 4B 2017-08-08 criteria provided, single submitter clinical testing
Invitae RCV001052376 SCV001216585 pathogenic Peroxisome biogenesis disorder 2022-07-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly695Glufs*19) 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). This variant is present in population databases (rs766483138, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with PEX6-related conditions. ClinVar contains an entry for this variant (Variation ID: 553235). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV002531203 SCV003611883 pathogenic Inborn genetic diseases 2022-03-16 criteria provided, single submitter clinical testing The c.2082delT (p.G695Efs*19) alteration, located in exon 10 (coding exon 10) of the PEX6 gene, consists of a deletion of one nucleotide at position 2082, causing a translational frameshift with a predicted alternate stop codon after 19 amino acids. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. Based on data from gnomAD, this allele has an overall frequency of 0.002% (2/251454) total alleles studied. The highest observed frequency was 0.001% (2/113736) of European (non-Finnish) alleles. Based on the available evidence, this alteration is classified as pathogenic.
Baylor Genetics RCV003472104 SCV004201573 likely pathogenic Heimler syndrome 2 2023-04-22 criteria provided, single submitter clinical testing

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