ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.1336+2T>C

dbSNP: rs768012515
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001960694 SCV002231957 pathogenic Mucopolysaccharidosis type 6 2021-09-15 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. For these reasons, this variant has been classified as Pathogenic. 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. Disruption of this splice site has been observed in individual(s) with mucopolysaccharidosis type VI (PMID: 4974081, 17458871, 24875751). This variant is not present in population databases (ExAC no frequency).

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