ClinVar Miner

Submissions for variant NM_001386393.1(PANK2):c.1330G>A (p.Glu444Lys)

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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 RCV003502050 SCV004298030 likely pathogenic Pigmentary pallidal degeneration 2023-12-25 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 554 of the PANK2 protein (p.Glu554Lys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with neurodegeneration with brain iron accumulation (PMID: 28113101, 32705819). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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