ClinVar Miner

Submissions for variant NC_000005.10:g.(?_78964406)_(78969202_?)del

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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 RCV001032287 SCV001195594 pathogenic Mucopolysaccharidosis type 6 2022-08-01 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 2-3 of the ARSB gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. A similar copy number variant has been observed in individual(s) with mucopolysaccharidosis type VI (PMID: 25190157, 27797586). This variant disrupts the p.Tyr210 amino acid residue in ARSB. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 8651289, 11939792, 17458871, 21514195, 23557332, 24221504). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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