ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.1123G>A (p.Glu375Lys)

gnomAD frequency: 0.00001  dbSNP: rs782634993
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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 RCV001244314 SCV001417525 uncertain significance Mucopolysaccharidosis, MPS-II 2024-09-08 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 375 of the IDS protein (p.Glu375Lys). This variant is present in population databases (rs782634993, gnomAD 0.003%), including at least one homozygous and/or hemizygous individual. This variant has not been reported in the literature in individuals affected with IDS-related conditions. ClinVar contains an entry for this variant (Variation ID: 969056). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The lysine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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. RCV001835200 SCV002084466 uncertain significance Mucopolysaccharidosis, MPS-III-A 2020-04-04 no assertion criteria provided clinical testing

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