ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.1328G>A (p.Arg443Gln)

gnomAD frequency: 0.00009  dbSNP: rs377605690
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000399603 SCV000407342 uncertain significance Sanfilippo syndrome 2016-06-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001800655 SCV002045127 uncertain significance Mucopolysaccharidosis, MPS-III-A 2021-11-07 criteria provided, single submitter clinical testing
Invitae RCV001800655 SCV002312293 uncertain significance Mucopolysaccharidosis, MPS-III-A 2022-10-26 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 443 of the SGSH protein (p.Arg443Gln). This variant is present in population databases (rs377605690, gnomAD 0.01%). 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: 325828). 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. 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 RCV002523033 SCV003578456 likely benign Inborn genetic diseases 2022-12-28 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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