ClinVar Miner

Submissions for variant NM_152419.3(HGSNAT):c.840C>T (p.Leu280=)

gnomAD frequency: 0.00004  dbSNP: rs1000820440
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001478247 SCV001682513 likely benign Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 2024-01-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003938852 SCV004749759 likely benign HGSNAT-related condition 2019-06-19 criteria provided, single submitter 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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