ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.647C>T (p.Thr216Ile)

gnomAD frequency: 0.00013  dbSNP: rs200364654
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000632185 SCV000753290 uncertain significance Mucopolysaccharidosis type 6 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 216 of the ARSB protein (p.Thr216Ile). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is present in population databases (rs200364654, ExAC 0.004%). This variant has not been reported in the literature in individuals affected with ARSB-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
GeneDx RCV003128671 SCV003805689 uncertain significance not provided 2022-08-26 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV000632185 SCV002084977 uncertain significance Mucopolysaccharidosis type 6 2020-02-26 no assertion criteria provided clinical testing

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