ClinVar Miner

Submissions for variant NM_153638.4(PANK2):c.38G>A (p.Trp13Ter)

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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 RCV002599153 SCV003496100 uncertain significance Pigmentary pallidal degeneration 2022-08-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp13*) in the PANK2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 558 amino acid(s) of the PANK2 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PANK2-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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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