ClinVar Miner

Submissions for variant NM_001386393.1(PANK2):c.1068G>T (p.Trp356Cys)

gnomAD frequency: 0.00001  dbSNP: rs767222898
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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 RCV001894352 SCV002124200 uncertain significance Pigmentary pallidal degeneration 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces tryptophan with cysteine at codon 466 of the PANK2 protein (p.Trp466Cys). The tryptophan residue is moderately conserved and there is a large physicochemical difference between tryptophan and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with PANK2-related conditions. 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: "Tolerated"; 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.

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