ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.835del (p.Asp279fs)

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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 RCV002508751 SCV002817375 likely pathogenic Mucopolysaccharidosis, MPS-IV-A 2022-12-24 criteria provided, single submitter clinical testing A Homozygous variation in exon 8 of the GALNS gene that results in the amino acid deletion at codon 835 was detected. The observed variant c.835del(p.Asp279ThrfsTer40) has not been reported in the 1000 genomes and ExAC databases. The in silico prediction of the variant are possibly damaging by PolyPhen-2 (HumDiv) and damaging by LRT and MutationTaster2. The reference codon is conserved across species. In summary, the variant meets our criteria to be classified as likely pathogenic.

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