ClinVar Miner

Submissions for variant NM_001258392.3(CLPB):c.1167+5G>T (rs1565424666)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000696412 SCV000824973 pathogenic 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia 2018-06-28 criteria provided, single submitter clinical testing This sequence change falls in intron 11 of the CLPB gene. It does not directly change the encoded amino acid sequence of the CLPB protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in an individual affected with 3-methylglutaconic aciduria (Invitae). 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 may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic.

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