Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Institute of Human Genetics, |
RCV004814882 | SCV005071692 | pathogenic | Retinal dystrophy | 2013-01-01 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV005089227 | SCV005839407 | pathogenic | not provided | 2024-08-03 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 61 of the NDP protein (p.Leu61Phe). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with NDP-related conditions and/or Norrie disease (PMID: 1307245, 9143918, 36729443). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 10690). 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. This variant disrupts the p.Leu61 amino acid residue in NDP. Other variant(s) that disrupt this residue have been observed in individuals with NDP-related conditions (PMID: 7627181, 9143918, 17296899), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic. |
| OMIM | RCV000011436 | SCV000031668 | pathogenic | Atrophia bulborum hereditaria | 1997-01-01 | no assertion criteria provided | literature only |