Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000732717 | SCV000860698 | uncertain significance | not provided | 2018-04-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001247848 | SCV001421299 | uncertain significance | Zellweger spectrum disorders | 2022-08-23 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 414 of the PEX1 protein (p.Ile414Val). This variant is present in population databases (rs759491353, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with PEX1-related conditions. ClinVar contains an entry for this variant (Variation ID: 596776). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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 | RCV003243283 | SCV003937381 | uncertain significance | Inborn genetic diseases | 2023-04-13 | criteria provided, single submitter | clinical testing | The c.1240A>G (p.I414V) alteration is located in exon 6 (coding exon 6) of the PEX1 gene. This alteration results from a A to G substitution at nucleotide position 1240, causing the isoleucine (I) at amino acid position 414 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001247848 | SCV002076915 | uncertain significance | Zellweger spectrum disorders | 2017-10-17 | no assertion criteria provided | clinical testing |