ClinVar Miner

Submissions for variant NM_000262.3(NAGA):c.1029C>A (p.Cys343Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003517907 SCV004249442 pathogenic Alpha-N-acetylgalactosaminidase deficiency type 1 2023-11-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys343*) in the NAGA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NAGA are known to be pathogenic (PMID: 8782044, 11251574). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NAGA-related conditions. For these reasons, this variant has been classified as Pathogenic.

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