ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.764G>C (p.Gly255Ala)

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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 RCV001093711 SCV001190353 likely pathogenic Mucopolysaccharidosis, MPS-IV-A criteria provided, single submitter clinical testing A compound heterozygous missense variation in exon 8 of the GALNS gene that results in the amino acid substitution of Alanine for Glycine at codon 255 was detected. The observed variant c.764G>C (p.Gly255Ala) 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 likely pathogenic.

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