ClinVar Miner

Submissions for variant NM_001386393.1(PANK2):c.854G>A (p.Ser285Asn)

dbSNP: rs2146867465
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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 RCV001995817 SCV002277046 uncertain significance Pigmentary pallidal degeneration 2022-07-12 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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. ClinVar contains an entry for this variant (Variation ID: 1482818). This variant has not been reported in the literature in individuals affected with PANK2-related conditions. This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 395 of the PANK2 protein (p.Ser395Asn).

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