ClinVar Miner

Submissions for variant NC_000008.11:g.(?_43196928)_(43197972_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001031297 SCV001194603 pathogenic Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 2019-01-20 criteria provided, single submitter clinical testing This variant is a sub-genic deletion of the genomic region encompassing exons 15-17 of the HGSNAT gene. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product. This variant has been observed in an individual affected with mucopolysaccharidosis type IIIC (Invitae). This variant disrupts the p.Ser541 amino acid residue in HGSNAT. Other variant(s) that disrupt this residue have been observed in individuals with HGSNAT-related conditions (PMID:17033958, 19823584, 19479962, 19823584, 20583299), suggesting that it is a clinically significant residue. As a result, variants that disrupt this residue are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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