Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000598507 | SCV000704781 | uncertain significance | not provided | 2016-12-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002532463 | SCV003275112 | uncertain significance | Peroxisome biogenesis disorder | 2022-10-17 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 969 of the PEX6 protein (p.Arg969Gln). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 499342). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on PEX6 protein function. 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. |
Ambry Genetics | RCV002532464 | SCV003729910 | uncertain significance | Inborn genetic diseases | 2022-06-03 | criteria provided, single submitter | clinical testing | The c.2906G>A (p.R969Q) alteration is located in exon 17 (coding exon 17) of the PEX6 gene. This alteration results from a G to A substitution at nucleotide position 2906, causing the arginine (R) at amino acid position 969 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |