ClinVar Miner

Submissions for variant NM_000262.3(NAGA):c.1146T>C (p.Asp382=)

gnomAD frequency: 0.00041  dbSNP: rs6002590
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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 RCV001502304 SCV001707133 likely benign Alpha-N-acetylgalactosaminidase deficiency type 1 2024-03-14 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004782594 SCV005394917 likely benign not specified 2024-09-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004530965 SCV004746882 likely benign NAGA-related disorder 2019-09-26 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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