ClinVar Miner

Submissions for variant NM_001166114.2(PNPLA6):c.4097G>A (p.Ter1366=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002797027 SCV003203201 uncertain significance Hereditary spastic paraplegia 39 2022-05-25 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals affected with PNPLA6-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects codon 1328 of the PNPLA6 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the PNPLA6 protein.

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