ClinVar Miner

Submissions for variant NM_001386393.1(PANK2):c.176_177delinsCT (p.Ser59Thr)

dbSNP: rs1568550594
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732725 SCV000860706 uncertain significance not provided 2018-04-12 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000732725 SCV001144864 uncertain significance not provided 2019-06-04 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000732725 SCV001715305 uncertain significance not provided 2020-02-04 criteria provided, single submitter clinical testing
Invitae RCV001855692 SCV002233657 uncertain significance Pigmentary pallidal degeneration 2022-07-12 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with threonine, which is neutral and polar, at codon 169 of the PANK2 protein (p.Ser169Thr). This variant is present in population databases (no rsID available, gnomAD 0.9%). This variant has not been reported in the literature in individuals affected with PANK2-related conditions. ClinVar contains an entry for this variant (Variation ID: 596781). 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: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). 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.
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV000732725 SCV004099085 uncertain significance not provided 2023-08-30 criteria provided, single submitter clinical testing PM2

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