ClinVar Miner

Submissions for variant NM_001386393.1(PANK2):c.1263G>A (p.Met421Ile)

gnomAD frequency: 0.00001  dbSNP: rs1600571977
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000801618 SCV000941402 uncertain significance Pigmentary pallidal degeneration 2020-02-15 criteria provided, single submitter clinical testing 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. 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 has not been reported in the literature in individuals with PANK2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces methionine with isoleucine at codon 531 of the PANK2 protein (p.Met531Ile). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and isoleucine.

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