ClinVar Miner

Submissions for variant NM_152419.3(HGSNAT):c.1245C>A (p.Cys415Ter)

dbSNP: rs375616017
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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 RCV002037909 SCV002228087 pathogenic Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 2023-04-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys415*) in the HGSNAT gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in HGSNAT are known to be pathogenic (PMID: 17033958, 19479962). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with HGSNAT-related conditions. ClinVar contains an entry for this variant (Variation ID: 1453420). For these reasons, this variant has been classified as Pathogenic.

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