ClinVar Miner

Submissions for variant NM_001166114.2(PNPLA6):c.315+1G>T

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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 RCV003508285 SCV004268838 likely pathogenic Hereditary spastic paraplegia 39 2023-08-01 criteria provided, single submitter clinical testing 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 currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant has not been reported in the literature in individuals affected with PNPLA6-related conditions. This variant is present in population databases (rs751417408, gnomAD 0.002%). This sequence change affects a donor splice site in intron 5 of the PNPLA6 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in PNPLA6 are known to be pathogenic (PMID: 24355708).

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