ClinVar Miner

Submissions for variant NM_001386393.1(PANK2):c.655G>T (p.Gly219Cys)

dbSNP: rs2146866714
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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 RCV002017114 SCV002291356 uncertain significance Pigmentary pallidal degeneration 2021-02-17 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 tolerated, 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 glycine with cysteine at codon 329 of the PANK2 protein (p.Gly329Cys). The glycine residue is moderately conserved and there is a large physicochemical difference between glycine and cysteine.

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