ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.1241dup (p.Ile416fs)

dbSNP: rs1910631809
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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 RCV001093707 SCV001190355 pathogenic Mucopolysaccharidosis, MPS-IV-A criteria provided, single submitter clinical testing A homozygous insertion variation in exon 11 of the GALNS gene that results in the amino acid substitution of Histidine for Isoleucine at codon 416 and premature termination of the protein was detected. The observed variant c.1241_1242insA (p.Ile416HisfsTer2) has not been reported in the 1000 genomes, gnomAD and ExAC databases. The in silico prediction of the variant is damaging by LRT and MutationTaster2. The reference codon is conserved across species. In summary, the variant meets our criteria to be classified as pathogenic.

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