ClinVar Miner

Submissions for variant NM_152419.3(HGSNAT):c.1553C>T (p.Ser518Phe)

gnomAD frequency: 0.00001  dbSNP: rs121908286
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001851534 SCV002238831 pathogenic Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 2022-03-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects HGSNAT function (PMID: 19823584). 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 HGSNAT protein function. ClinVar contains an entry for this variant (Variation ID: 1238). This missense change has been observed in individual(s) with mucopolysaccharidosis type III (PMID: 17397050, 18024218). This variant is present in population databases (rs121908286, gnomAD 0.002%). This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 518 of the HGSNAT protein (p.Ser518Phe).
OMIM RCV000001297 SCV000021447 pathogenic Mucopolysaccharidosis, MPS-III-C 2011-10-01 no assertion criteria provided literature only
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001723529 SCV001957023 likely pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001723529 SCV001966068 pathogenic not provided no assertion criteria provided clinical testing

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