ClinVar Miner

Submissions for variant NM_001386393.1(PANK2):c.67A>G (p.Met23Val)

dbSNP: rs2146804825
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University RCV001420152 SCV001622416 pathogenic Pigmentary pallidal degeneration 2021-05-13 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004526850 SCV005039023 uncertain significance not specified 2024-03-27 criteria provided, single submitter clinical testing Variant summary: ALOXE3 c.397A>G (p.Arg133Gly) results in a non-conservative amino acid change located in the Lipoxygenase, C-terminal (IPR013819) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 3.6e-05 in 251490 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.397A>G has been reported in the literature in individuals affected with Lamellar Ichthyosis. These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One submitter has cited clinical-significance assessments for this variant to ClinVar after 2014 and has classified the variant as pathogenic/likely pathogenic. Based on the evidence outlined above, the variant was classified as uncertain significance.

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