ClinVar Miner

Submissions for variant NM_152419.3(HGSNAT):c.1030C>T (p.Arg344Cys) (rs121908285)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000001296 SCV000794222 likely pathogenic Mucopolysaccharidosis, MPS-III-C 2017-09-20 criteria provided, single submitter clinical testing
Invitae RCV000799182 SCV000938835 pathogenic Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 2020-09-02 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 344 of the HGSNAT protein (p.Arg344Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs121908285, ExAC 0.001%). This variant has been observed in several individuals affected with MPS IIIC (PMID: 17033958, 18024218). ClinVar contains an entry for this variant (Variation ID: 1237). Experimental studies have shown that this missense change causes HGSNAT protein misfolding, subcellular mislocation and loss of enzymatic activity (PMID: 19823584, 20583299, 20825431). The observation of one or more missense substitutions at this codon (p.Arg344Cys and p.Arg344His) in affected individuals suggests that this may be a clinically significant residue (PMID: 17033958, 18024218). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000001296 SCV000021446 pathogenic Mucopolysaccharidosis, MPS-III-C 2011-10-01 no assertion criteria provided literature only
GeneReviews RCV001030801 SCV001194290 pathogenic Mucopolysaccharidosis 2019-09-04 no assertion criteria provided literature only
Natera, Inc. RCV000001296 SCV001460468 pathogenic Mucopolysaccharidosis, MPS-III-C 2020-09-16 no assertion criteria provided clinical testing

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