Submissions for variant NM_000202.8(IDS):c.1373G>A (p.Arg458His)

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV003063448	SCV003455706	uncertain significance	Mucopolysaccharidosis, MPS-II	2022-06-10	criteria provided, single submitter	clinical testing	This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 458 of the IDS protein (p.Arg458His). This variant is present in population databases (rs782697859, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with IDS-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 IDS 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.
Revvity Omics, Revvity	RCV003063448	SCV004235542	uncertain significance	Mucopolysaccharidosis, MPS-II	2023-06-25	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003883870	SCV004701216	uncertain significance	not provided	2024-01-01	criteria provided, single submitter	clinical testing	IDS: PM2