ClinVar Miner

Submissions for variant NM_152419.3(HGSNAT):c.150del (p.Met51fs)

dbSNP: rs1802737867
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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 RCV001210786 SCV001382292 pathogenic Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 2023-12-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Met51Trpfs*17) 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: 941073). For these reasons, this variant has been classified as Pathogenic.

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