Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002933112 | SCV003263934 | uncertain significance | Anterior segment dysgenesis 7 | 2023-07-09 | criteria provided, single submitter | clinical testing | An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 211 of the PXDN protein (p.Ala211Val). This variant is present in population databases (rs187946539, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with PXDN-related conditions. ClinVar contains an entry for this variant (Variation ID: 2054998). 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 | RCV003274080 | SCV003956525 | uncertain significance | Inborn genetic diseases | 2023-03-23 | criteria provided, single submitter | clinical testing | The c.632C>T (p.A211V) alteration is located in exon 7 (coding exon 7) of the PXDN gene. This alteration results from a C to T substitution at nucleotide position 632, causing the alanine (A) at amino acid position 211 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |