ClinVar Miner

Submissions for variant NM_001386393.1(PANK2):c.940CTT[1] (p.Leu315del)

dbSNP: rs1064794317
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482738 SCV000568777 likely pathogenic not provided 2023-12-12 criteria provided, single submitter clinical testing In-frame deletion of 1 amino acid in a non-repeat region; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 26828213, 12510040, 22103354, 31540697, 17999425)
Labcorp Genetics (formerly Invitae), Labcorp RCV003502530 SCV004253069 pathogenic Pigmentary pallidal degeneration 2023-11-19 criteria provided, single submitter clinical testing This variant, c.1273_1275del, results in the deletion of 1 amino acid(s) of the PANK2 protein (p.Leu425del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with clinical features of PANK2-related conditions (PMID: 12510040). This variant is also known as 943–945del; L315del. ClinVar contains an entry for this variant (Variation ID: 420144). This variant disrupts a region of the PANK2 protein in which other variant(s) (p.Leu425Pro) have been determined to be pathogenic (PMID: 16437574). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV003502530 SCV005656912 likely pathogenic Pigmentary pallidal degeneration 2024-05-16 criteria provided, single submitter clinical testing

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