ClinVar Miner

Submissions for variant NM_152419.3(HGSNAT):c.1880A>G (p.Tyr627Cys) (rs192857413)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478941 SCV000568710 uncertain significance not provided 2017-02-07 criteria provided, single submitter clinical testing The Y627C variant in the HGSNAT gene has been reported previously as a homozygous variant in 2 individuals with mucopolysaccharidosis IIIC, however both of these individuals were also homozygous for a nonsense variant in the HGSNAT gene (Ouesleti et al., 2012). The Y627C variant is observed in 23/9204 (0.25%) alleles from individuals of African background, in the ExAC dataset (Lek et al., 2016). The Y627C variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret Y627C as a variant of uncertain significance.
Invitae RCV000802522 SCV000942357 likely benign Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 2020-12-03 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000625332 SCV001326458 uncertain significance Mucopolysaccharidosis, MPS-III-C 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252520 SCV001428277 uncertain significance Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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