ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.1483-2A>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV003222545 SCV003915846 likely pathogenic Mucopolysaccharidosis, MPS-IV-A 2023-04-13 criteria provided, single submitter clinical testing A Heterozygous missense variation in intron 14 of the GALNS gene was detected. The observed variant c.1483-2A>C has not been reported in the 1000 genomes and gnomAD databases. The in silico prediction of the variant is disease causing by MutationTaster. The reference codon is conserved across species. In summary, the variant meets our criteria to be classified as likely pathogenic.

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