ClinVar Miner

Submissions for variant NM_153704.6(TMEM67):c.2322+5del

dbSNP: rs863225240
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UW Hindbrain Malformation Research Program, University of Washington RCV000201630 SCV000256527 likely pathogenic Joubert syndrome 6 2015-02-23 criteria provided, single submitter research
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005055723 SCV005726152 likely pathogenic Joubert syndrome and related disorders 2024-11-20 criteria provided, single submitter clinical testing Variant summary: TMEM67 c.2322+5delG alters a conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. Several computational tools predict a significant impact on normal splicing: Four predict the variant abolishes a 5' splicing donor site. At least one publication reports experimental evidence that this variant affects mRNA splicing, resulting in the skipping of exon 22 (Tsurusaki_2013). The variant allele was found at a frequency of 4e-06 in 251096 control chromosomes. c.2322+5delG has been reported in the literature in individuals affected with Joubert Syndrome And Related Disorders (e.g. Tsurusaki_2013, Bachmann-Gagescu_JMG_2015). The following publications have been ascertained in the context of this evaluation (PMID: 26092869, 23034536). ClinVar contains an entry for this variant (Variation ID: 217731). Based on the evidence outlined above, the variant was classified as likely pathogenic.

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