ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.1046G>A (p.Ser349Asn)

gnomAD frequency: 0.00001  dbSNP: rs138918423
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478817 SCV000571976 likely benign not provided 2018-09-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003621539 SCV004516605 uncertain significance Mucopolysaccharidosis, MPS-II 2023-11-21 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 349 of the IDS protein (p.Ser349Asn). This variant is not present in population databases (gnomAD no frequency). 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: 422490). 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) has been performed at Invitae 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 IDS protein function. This variant disrupts the p.Ser349 amino acid residue in IDS. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 9452044, 9501270, 17091340). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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.
Ambry Genetics RCV004984906 SCV005600276 uncertain significance Inborn genetic diseases 2024-11-21 criteria provided, single submitter clinical testing The c.1046G>A (p.S349N) alteration is located in exon 8 (coding exon 8) of the IDS gene. This alteration results from a G to A substitution at nucleotide position 1046, causing the serine (S) at amino acid position 349 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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