ClinVar Miner

Submissions for variant NM_152419.3(HGSNAT):c.65del (p.Leu22fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005051631 SCV005675473 likely pathogenic Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 2024-04-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005051631 SCV005864526 pathogenic Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 2025-01-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu22Argfs*20) 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. For these reasons, this variant has been classified as Pathogenic.

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