ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.958G>A (p.Asp320Asn)

dbSNP: rs2089379111
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001265810 SCV001443982 uncertain significance Inborn genetic diseases 2018-02-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001880100 SCV002258532 uncertain significance Mucopolysaccharidosis, MPS-II 2022-07-05 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 320 of the IDS protein (p.Asp320Asn). 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: 985084). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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. RCV001830066 SCV002084469 uncertain significance Mucopolysaccharidosis, MPS-III-A 2020-07-27 no assertion criteria provided clinical testing

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