ClinVar Miner

Submissions for variant NM_001386393.1(PANK2):c.883T>G (p.Tyr295Asp)

dbSNP: rs1288629241
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Genetic Diagnostic of Neurological Diseases, University of Belgrade, School of Medicine RCV001289540 SCV001468673 pathogenic Pigmentary pallidal degeneration 2020-07-01 criteria provided, single submitter clinical testing
Invitae RCV001289540 SCV001512707 uncertain significance Pigmentary pallidal degeneration 2020-02-11 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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 tyrosine with aspartic acid at codon 405 of the PANK2 protein (p.Tyr405Asp). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and aspartic acid.

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