ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.374del (p.Pro125fs)

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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 RCV002291514 SCV002583289 pathogenic Mucopolysaccharidosis, MPS-IV-A 2022-07-30 criteria provided, single submitter clinical testing A homozygous single base pair deletion in exon 4 of the GALNS gene (chr16:g. 88841040 del; Depth: 121x) that results in a frameshift and premature truncation of the protein 4 amino acids downstream to codon 125 (p.Pro125ArgfsTer4; ENST00000268695.10) was detected (Table). This variant has not been reported in the 1000 genomes and gnomAD databases and has a minor allele frequency of 0.001% in our internal database. The in silico prediction of the variant is damaging MutationTaster2. The reference region is conserved across species.

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