ClinVar Miner

Submissions for variant NM_138393.4(REEP6):c.517+5G>T

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002913359 SCV003251666 uncertain significance not provided 2022-07-23 criteria provided, single submitter clinical testing This sequence change falls in intron 4 of the REEP6 gene. It does not directly change the encoded amino acid sequence of the REEP6 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs761318551, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with REEP6-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.
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796746 SCV005416410 uncertain significance Retinitis pigmentosa 77 criteria provided, single submitter clinical testing PM2_Supporting+PP3

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