Submissions for variant NM_000266.4(NDP):c.112C>T (p.Arg38Cys)

dbSNP: rs758550101

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	RCV001268627	SCV001447693	pathogenic	not provided	2020-10-23	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001268627	SCV004300001	pathogenic	not provided	2024-12-19	criteria provided, single submitter	clinical testing	This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 38 of the NDP protein (p.Arg38Cys). This variant is present in population databases (no rsID available, gnomAD 0.001%). This missense change has been observed in individual(s) with exudative vitreoretinopathy (FEVR) and/or Norrie disease (PMID: 14635119, 21960066, 30074570, 30452590; internal data). This variant is also known as C520T. ClinVar contains an entry for this variant (Variation ID: 987301). Invitae Evidence 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 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. For these reasons, this variant has been classified as Pathogenic.
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001268627	SCV001806938	likely pathogenic	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001268627	SCV001959420	likely pathogenic	not provided		no assertion criteria provided	clinical testing