ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.1213+6T>C (rs1554074118)

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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 RCV000677466 SCV000802973 pathogenic Mucopolysaccharidosis type 6 2018-01-01 criteria provided, single submitter curation Splicing variant in NON-canonical site (PVS1); in vitro functional studies supportive of a damaging effect on the gene product (low to no ARSB activity in homozygotes; PS3); Absent from GnomAD (PM2);
Invitae RCV000677466 SCV001514925 uncertain significance Mucopolysaccharidosis type 6 2020-10-26 criteria provided, single submitter clinical testing This sequence change falls in intron 6 of the ARSB gene. It does not directly change the encoded amino acid sequence of the ARSB protein. It affects a nucleotide within the consensus splice site of the intron. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with mucopolysaccharidosis type VI (PMID: 30809705). ClinVar contains an entry for this variant (Variation ID: 559692). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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