ClinVar Miner

Submissions for variant NC_000005.9:g.(?_78260219)_(78265035_?)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 RCV001386244 SCV001586387 pathogenic Mucopolysaccharidosis type 6 2020-09-24 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing exons 2-3 of the ARSB gene. It preserves the integrity of the reading frame. This variant has been observed in individuals, a family, several families affected 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, 21514195, 24221504, 23557332, 17458871, 11939792). 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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