ClinVar Miner

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

dbSNP: rs1372286994
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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 2021-08-31 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 missense change has been observed in individual(s) with mucopolysaccharidosis IIIC (PMID: 18024218). ClinVar contains an entry for this variant (Variation ID: 830366). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. Experimental studies have shown that this missense change affects HGSNAT 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 not provided Mucopolysaccharidosis no assertion provided literature only

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