ClinVar Miner

Submissions for variant NC_000023.10:g.(?_148564257)_(148586687_?)dup

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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 RCV000632183 SCV000753288 uncertain significance Mucopolysaccharidosis, MPS-II 2018-01-16 criteria provided, single submitter clinical testing A gross duplication of the genomic region encompassing the full coding sequence of the IDS gene has been identified. The boundaries of this event are unknown as the duplication extends beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this duplication is unknown, it may be in tandem or it may be located elsewhere in the genome. IDS duplication has been reported in an individual affected with tetralogy of fallot (PMID: 22912587). 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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