Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000441399 | SCV000511848 | uncertain significance | not provided | 2016-09-22 | criteria provided, single submitter | clinical testing | Converted during submission to Uncertain significance. |
Gene |
RCV000441399 | SCV000976781 | likely benign | not provided | 2020-07-21 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 25182519) |
Invitae | RCV000441399 | SCV001219172 | uncertain significance | not provided | 2023-08-23 | criteria provided, single submitter | clinical testing | This missense change has been observed in individual(s) with Peters anomaly (PMID: 25182519). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 129 of the NDP protein (p.Glu129Lys). This variant is present in population databases (rs756474198, gnomAD 0.05%), and has an allele count higher than expected for a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 377374). 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 NDP 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. |