ClinVar Miner

Submissions for variant NM_001166114.2(PNPLA6):c.3700-3C>T

dbSNP: rs766686613
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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 RCV001302600 SCV001491814 uncertain significance Hereditary spastic paraplegia 39 2020-08-16 criteria provided, single submitter clinical testing Nucleotide substitutions within 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 is not likely to affect RNA splicing, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with PNPLA6-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 31 of the PNPLA6 gene. It does not directly change the encoded amino acid sequence of the PNPLA6 protein, but it affects a nucleotide within the consensus splice site of the intron. 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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