ClinVar Miner

Submissions for variant NM_001386393.1(PANK2):c.53G>A (p.Arg18Gln)

gnomAD frequency: 0.00011  dbSNP: rs546381069
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000631205 SCV000752219 likely benign Pigmentary pallidal degeneration 2024-01-21 criteria provided, single submitter clinical testing
Department of Neurology, Xijing Hospital, Fourth Military Medical University RCV000631205 SCV002553238 uncertain significance Pigmentary pallidal degeneration 2022-03-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002282271 SCV002571045 likely benign not specified 2022-07-12 criteria provided, single submitter clinical testing Variant summary: PANK2 c.383G>A (p.Arg128Gln) results in a conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00029 in 86722 control chromosomes (gnomAD), predominantly at a frequency of 0.0033 within the East Asian subpopulation in the gnomAD database. The observed variant frequency within East Asian control individuals in the gnomAD database is approximately 3 fold of the estimated maximal expected allele frequency for a pathogenic variant in PANK2 causing Pantothenate Kinase-Associated Neurodegeneration phenotype (0.0011), suggesting that the variant is a benign polymorphism found primarily in populations of East Asian origin. c.383G>A has been reported in the literature in individuals affected with Pantothenate Kinase-Associated Neurodegeneration (Chang_2020). The variant was also found co-occurring with another pathogenic variant in an individual with retinitis pigmentosa (CNGA1 c.179del, p.Gly60fs, Katagiri_2014), providing supporting evidence for a benign role. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One ClinVar submitter has assessed the variant since 2014: the variant was classified as likely benign. Based on the evidence outlined above, the variant was classified as likely benign.

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