ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.1482+5G>A

dbSNP: rs2142982032
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova RCV001578435 SCV001547978 uncertain significance Mucopolysaccharidosis, MPS-IV-A 2021-02-01 criteria provided, single submitter curation Absent from gnomAD v2.1.1 (PM2_moderate)
Neuberg Centre For Genomic Medicine, NCGM RCV001578435 SCV005073883 uncertain significance Mucopolysaccharidosis, MPS-IV-A criteria provided, single submitter clinical testing The observed splice region, intron variant c.1482+5G>A in GALNS gene has been reported previously in compound heterozygous state in two families with Morquio (Morquio-Brailsford) syndrome (Jezela-Stanek A, et al., 2019). The c.1482+5G>A variant is absent in gnomAD Exomes. This variant has been reported to the ClinVar database as Uncertain Significance. However study on multiple affected individuals and functional studies on the pathogenicity of the variant is unavailable. This variant is predicted to be Likely damaging by SpliceAI Prediction. For these reasons, this variant has been classified as Uncertain Significance.

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