ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.1049T>C (p.Leu350Pro)

dbSNP: rs1910973930
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Total submissions: 2
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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 RCV001093709 SCV001190354 likely pathogenic Mucopolysaccharidosis, MPS-IV-A criteria provided, single submitter clinical testing A homozygous missense variation in exon 10 of the GALNS gene that results in the amino acid substitution of Proline for Leucine at codon 350 was detected. The observed variant c.1049T>C (p.Leu350Pro)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.
Neuberg Centre For Genomic Medicine, NCGM RCV001093709 SCV004047676 likely pathogenic Mucopolysaccharidosis, MPS-IV-A criteria provided, single submitter clinical testing The missense variant c.1049T>C (p.Leu350Pro) in GALNS has been submitted to ClinVar as Likely pathogenic, but no details are available for independent assessment. The p.Leu350Pro variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The amino acid Leu at position 350 is changed to a Pro changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Leu350Pro in GALNS is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Likely Pathogenic.

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