ClinVar Miner

Submissions for variant NM_152419.3(HGSNAT):c.1616C>G (p.Ser539Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001366744 SCV001563059 uncertain significance Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 2020-06-16 criteria provided, single submitter clinical testing This sequence change replaces serine with cysteine at codon 539 of the HGSNAT protein (p.Ser539Cys). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with mucopolysaccharidosis IIIC (PMID: 18024218). ClinVar contains an entry for this variant (Variation ID: 830366). This variant has been reported to affect HGSNAT protein function (PMID: 19823584, 20583299). 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.
GeneReviews RCV001030803 SCV001194292 pathogenic Mucopolysaccharidosis 2019-09-04 no assertion criteria provided literature only

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