ClinVar Miner

Submissions for variant NC_000020.10:g.(?_3891204)_(3893301_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003113765 SCV003796848 pathogenic Pigmentary pallidal degeneration 2021-12-22 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 3-4 of the PANK2 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in PANK2 are known to be pathogenic (PMID: 11479594, 12510040). A similar copy number variant has been observed in individual(s) with neurodegeneration with brain iron accumulation (PMID: 16437574). For these reasons, this variant has been classified as Pathogenic.

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