Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000180485 | SCV000232938 | uncertain significance | not provided | 2015-05-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001852249 | SCV002189831 | uncertain significance | Peroxisome biogenesis disorder | 2024-01-22 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 653 of the PEX6 protein (p.Ser653Leu). This variant is present in population databases (rs267608228, gnomAD 0.04%). 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: 199006). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt PEX6 protein function with a negative predictive value of 95%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Fulgent Genetics, |
RCV002500521 | SCV002780608 | uncertain significance | Peroxisome biogenesis disorder 4A (Zellweger); Peroxisome biogenesis disorder 4B; Heimler syndrome 2 | 2021-09-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002516821 | SCV003731863 | uncertain significance | Inborn genetic diseases | 2021-02-08 | criteria provided, single submitter | clinical testing | The c.1958C>T (p.S653L) alteration is located in exon 9 (coding exon 9) of the PEX6 gene. This alteration results from a C to T substitution at nucleotide position 1958, causing the serine (S) at amino acid position 653 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |