ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.120+1G>C

dbSNP: rs911877265
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001051438 SCV001215592 pathogenic Mucopolysaccharidosis, MPS-IV-A 2021-08-31 criteria provided, single submitter clinical testing
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova RCV001051438 SCV001547586 pathogenic Mucopolysaccharidosis, MPS-IV-A 2021-02-01 criteria provided, single submitter curation Splicing variant in canonical site (PVS1_very strong); in vivo functional studies supportive of a damaging effect on the gene product (low to null enzymatic activity in homozygotes; PS3_moderate); absent from gnomAD v2.1.1 (PM2_moderate)
Genome-Nilou Lab RCV001051438 SCV002045042 pathogenic Mucopolysaccharidosis, MPS-IV-A 2021-11-07 criteria provided, single submitter clinical testing
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV001051438 SCV003845189 pathogenic Mucopolysaccharidosis, MPS-IV-A 2023-03-21 criteria provided, single submitter clinical testing A homozygous 3’splice site variation in intron 1 of the GALNS gene downstream of exon 1 was detected. The observed variant c.120+1G>C has not been reported in the 1000 genomes and ExAC databases. The variant has previously been reported in a patient affected with MPS IVA (Bidchol et al. 2014). The in-silico prediction of the variant is damaging by MutationTaster2. In summary, the variant meets our criteria to be classified as pathogenic.

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