ClinVar Miner

Submissions for variant NC_000008.11:g.(?_43169153)_(43178254_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001033349 SCV001196656 pathogenic Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 2019-12-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in HGSNAT are known to be pathogenic (PMID: 17033958, 19479962). This variant has not been reported in the literature in individuals with HGSNAT-related conditions. This variant is an out-of-frame deletion of the genomic region encompassing exon(s) 6-10 of the HGSNAT gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product.

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