ClinVar Miner

Submissions for variant NM_001386393.1(PANK2):c.1318T>C (p.Phe440Leu)

dbSNP: rs138402319
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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 RCV001988767 SCV002285790 uncertain significance Pigmentary pallidal degeneration 2021-08-02 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. This missense change has been observed in individual(s) with neurodegeneration with brain iron accumulation (PMID: 16437574). This variant is present in population databases (rs138402319, ExAC 0.001%). This sequence change replaces phenylalanine with leucine at codon 550 of the PANK2 protein (p.Phe550Leu). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and leucine.

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