ClinVar Miner

Submissions for variant NM_003560.4(PLA2G6):c.1754C>T (p.Thr585Ile)

gnomAD frequency: 0.00001  dbSNP: rs587784338
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147302 SCV000194675 pathogenic Iron accumulation in brain 2013-02-08 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004700467 SCV005204218 uncertain significance not specified 2024-06-20 criteria provided, single submitter clinical testing Variant summary: PLA2G6 c.1754C>T (p.Thr585Ile) results in a non-conservative amino acid change located in the Patatin-like phospholipase domain (IPR002641) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251170 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.1754C>T has been reported in the literature in at least one compound heterozygous individual affected with Infantile Neuroaxonal Dystrophy (Morgan_2006). These report(s) do not provide unequivocal conclusions about association of the variant with Infantile Neuroaxonal Dystrophy. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 18799783, 16783378). ClinVar contains an entry for this variant (Variation ID: 159747). Based on the evidence outlined above, the variant was classified as uncertain significance.

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