ClinVar Miner

Submissions for variant NM_001386393.1(PANK2):c.987del (p.Arg330fs)

gnomAD frequency: 0.00001  dbSNP: rs544616523
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001861860 SCV002153607 pathogenic Pigmentary pallidal degeneration 2023-06-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 560475). This variant is also known as 987delT. This premature translational stop signal has been observed in individual(s) with clinical features of PANK2-related conditions (PMID: 16023068). This variant is present in population databases (rs544616523, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Arg440Valfs*10) in the PANK2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PANK2 are known to be pathogenic (PMID: 11479594, 12510040).
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000678590 SCV000804672 pathogenic Cone-rod dystrophy 2016-09-01 no assertion criteria provided clinical testing

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