ClinVar Miner

Submissions for variant NM_001166114.2(PNPLA6):c.1740C>T (p.Gly580=)

gnomAD frequency: 0.00001  dbSNP: rs752720134
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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 RCV001317652 SCV001508322 uncertain significance Hereditary spastic paraplegia 39 2020-08-25 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, 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 present in population databases (rs752720134, ExAC 0.002%). This sequence change affects codon 541 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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