ClinVar Miner

Submissions for variant NM_001386393.1(PANK2):c.519C>A (p.His173Gln)

dbSNP: rs2090416889
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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 RCV001991576 SCV002282135 uncertain significance Pigmentary pallidal degeneration 2022-02-15 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with glutamine, which is neutral and polar, at codon 283 of the PANK2 protein (p.His283Gln). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with pantothenate kinase-associated neurodegeneration (PMID: 22416811). 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"). This variant disrupts the p.His283 amino acid residue in PANK2. Other variant(s) that disrupt this residue have been observed in individuals with PANK2-related conditions (PMID: 16157712), which suggests that this may be a clinically significant amino acid residue. 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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