ClinVar Miner

Submissions for variant NM_001386393.1(PANK2):c.1102A>G (p.Lys368Glu)

dbSNP: rs559623184
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001138967 SCV001299062 uncertain significance Pigmentary pallidal degeneration 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx RCV001772184 SCV001992014 uncertain significance not provided 2019-02-14 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 30212743, 32581362)
Neuberg Centre For Genomic Medicine, NCGM RCV001138967 SCV002072999 uncertain significance Pigmentary pallidal degeneration criteria provided, single submitter clinical testing The missense variant p.K478E in PANK2 (NM_153638.4) has been recently reported in a patient with disorder within the neurodevelopmental domain but no details are available for independent assesment (Turro E et al, 2020). The missense variant c.1432A>G (p.K478E) in PANK2 (NM_153638.4) is observed in 37/30616 (0.1209%) alleles from individuals of South Asian background in the gnomAD dataset (Exome Aggregation Consortium et al., 2016), but was not seen in the homozygous state. The variant has been submitted to ClinVar with varying interpretations of pathogenicity :Uncertain Significance/Likely Pathogenic. The p.K478E missense variant is predicted to be damaging by both SIFT and PolyPhen2. The lysine residue at codon 478 of PANK2 is conserved in all mammalian species. The nucleotide c.1432 in PANK2 is predicted conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002479198 SCV002785476 uncertain significance Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration; Pigmentary pallidal degeneration 2022-03-09 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001772184 SCV003812300 uncertain significance not provided 2024-01-09 criteria provided, single submitter clinical testing
Baylor Genetics RCV001138967 SCV004183429 likely pathogenic Pigmentary pallidal degeneration 2023-09-13 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV001003627 SCV001162054 likely pathogenic Dystonic disorder no assertion criteria provided research

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.