ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.1336+1G>A

gnomAD frequency: 0.00001  dbSNP: rs376233975
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001890300 SCV002155987 pathogenic Mucopolysaccharidosis type 6 2023-11-20 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 7 of the ARSB gene. While this variant is not anticipated to result in nonsense mediated decay, it likely alters RNA splicing and results in a disrupted protein product. This variant is present in population databases (rs376233975, gnomAD 0.004%). Disruption of this splice site has been observed in individual(s) with mucopolysaccharidosis type VI (PMID: 14974081, 17458871, 24875751). ClinVar contains an entry for this variant (Variation ID: 1382456). Variants that disrupt 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. This variant disrupts a region of the ARSB protein in which other variant(s) (p.Asp480Glyfs*3) have been determined to be pathogenic (Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001890300 SCV004209136 likely pathogenic Mucopolysaccharidosis type 6 2023-09-05 criteria provided, single submitter clinical testing

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