Total submissions: 4
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 |