Submissions for variant NM_014625.4(NPHS2):c.548A>G (p.Asp183Gly)

dbSNP: rs1673967924

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001342681	SCV001536626	uncertain significance	not provided	2021-08-20	criteria provided, single submitter	clinical testing	This sequence change replaces aspartic acid with glycine at codon 183 of the NPHS2 protein (p.Asp183Gly). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and glycine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with NPHS2-related conditions. 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) performed at Invitae indicates that this missense variant is expected to disrupt NPHS2 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.
Natera, Inc.	RCV001831089	SCV002090090	uncertain significance	Steroid-resistant nephrotic syndrome	2020-12-10	no assertion criteria provided	clinical testing