ClinVar Miner

Submissions for variant NM_152419.3(HGSNAT):c.1051C>T (p.Arg351Ter)

dbSNP: rs756420301
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001204409 SCV001375615 pathogenic Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 2023-10-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg351*) 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 present in population databases (rs756420301, gnomAD 0.003%). 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: 935752). For these reasons, this variant has been classified as Pathogenic.
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV004570431 SCV005051830 pathogenic Mucopolysaccharidosis, MPS-III-C 2024-02-01 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV001204409 SCV005675489 likely pathogenic Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 2024-03-09 criteria provided, single submitter clinical testing

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