ClinVar Miner

Submissions for variant NM_001166114.2(PNPLA6):c.2634G>A (p.Gln878=)

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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 RCV003092896 SCV003483145 uncertain significance Hereditary spastic paraplegia 39 2022-01-26 criteria provided, single submitter clinical testing This sequence change affects codon 840 of the PNPLA6 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the PNPLA6 protein. This variant also falls at the last nucleotide of exon 24, which is part of the consensus splice site for this exon. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with PNPLA6-related conditions. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.

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