ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.1499A>G (p.Asn500Ser)

dbSNP: rs779856036
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001322464 SCV001513338 uncertain significance Mucopolysaccharidosis, MPS-III-A 2022-10-08 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 500 of the SGSH protein (p.Asn500Ser). This variant is present in population databases (rs779856036, gnomAD 0.006%). 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: 1022539). 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 not expected to disrupt SGSH protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 RCV001322464 SCV002045114 uncertain significance Mucopolysaccharidosis, MPS-III-A 2021-11-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV001322464 SCV002094491 uncertain significance Mucopolysaccharidosis, MPS-III-A 2020-07-27 no assertion criteria provided clinical testing

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