ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.1184G>C (p.Arg395Thr)

gnomAD frequency: 0.00001  dbSNP: rs782475200
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001305978 SCV001495333 uncertain significance Mucopolysaccharidosis, MPS-II 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces arginine with threonine at codon 395 of the IDS protein (p.Arg395Thr). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and threonine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. 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.
Natera, Inc. RCV001830223 SCV002084461 uncertain significance Mucopolysaccharidosis, MPS-III-A 2020-03-10 no assertion criteria provided clinical testing

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