ClinVar Miner

Submissions for variant NM_152419.3(HGSNAT):c.828A>G (p.Thr276=)

gnomAD frequency: 0.00177  dbSNP: rs182393180
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000880835 SCV001023957 benign Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 2025-01-27 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001805927 SCV002051030 likely benign not specified 2021-12-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275629 SCV001460915 likely benign Mucopolysaccharidosis, MPS-III-C 2020-06-07 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003948307 SCV004764180 likely benign HGSNAT-related disorder 2019-11-07 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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