ClinVar Miner

Submissions for variant NM_152419.3(HGSNAT):c.1031G>A (p.Arg344His) (rs766835582)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666423 SCV000790712 likely pathogenic Mucopolysaccharidosis, MPS-III-C 2017-04-05 criteria provided, single submitter clinical testing
Invitae RCV001383040 SCV001582049 pathogenic Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 2020-09-24 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 344 of the HGSNAT protein (p.Arg344His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs766835582, ExAC 0.02%). This variant has been observed in individual(s) with mucopolysaccharidosis type III (PMID: 17033958). This variant is also known as c.1115G>A (p.R372H). ClinVar contains an entry for this variant (Variation ID: 551378). 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. This variant disrupts the p.Arg344 amino acid residue in HGSNAT. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 17033958, 18024218). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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