ClinVar Miner

Submissions for variant NM_003560.4(PLA2G6):c.1797C>G (p.Phe599Leu)

dbSNP: rs1555979298
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000634963 SCV000756339 pathogenic Infantile neuroaxonal dystrophy 2022-06-27 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 599 of the PLA2G6 protein (p.Phe599Leu). For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt PLA2G6 protein function. ClinVar contains an entry for this variant (Variation ID: 529508). This missense change has been observed in individual(s) with clinical features of PLA2G6-related conditions (PMID: 32771225; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency).
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000634963 SCV002525868 uncertain significance Infantile neuroaxonal dystrophy 2021-10-19 criteria provided, single submitter clinical testing PM2, PP3.

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