ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.67C>T (p.Arg23Trp)

gnomAD frequency: 0.00035  dbSNP: rs529571746
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001360802 SCV001556744 uncertain significance Mucopolysaccharidosis, MPS-III-A 2022-11-03 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 23 of the SGSH protein (p.Arg23Trp). This variant is present in population databases (rs529571746, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with SGSH-related conditions. ClinVar contains an entry for this variant (Variation ID: 1052585). 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 SGSH 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.
Genome-Nilou Lab RCV001360802 SCV002045476 uncertain significance Mucopolysaccharidosis, MPS-III-A 2021-11-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV001360802 SCV002095151 uncertain significance Mucopolysaccharidosis, MPS-III-A 2020-01-17 no assertion criteria provided clinical testing

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