ClinVar Miner

Submissions for variant NM_001386393.1(PANK2):c.1248_1256del (p.Asn417_Ile419del)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003338230 SCV004047267 uncertain significance Pigmentary pallidal degeneration criteria provided, single submitter clinical testing The Inframe deletion variant c.1248_1256del (p.Asn417_Ile419del) in PANK2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant has not been reported to the ClinVar database. The p.Asn417_Ile419del variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The observed variant is not in repeat region. This p.Asn417_Ile419del causes deletion of amino acid Asparagine at position 417 to Isoleucine at position 419. For these reasons, this variant has been classified as Uncertain Significance (VUS).

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