ClinVar Miner

Submissions for variant NM_001142301.1(TMEM67):c.2079+2dup (rs386834192)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000176336 SCV000227971 uncertain significance not provided 2014-12-10 criteria provided, single submitter clinical testing
UW Hindbrain Malformation Research Program,University of Washington RCV000201707 SCV000256522 likely pathogenic Joubert syndrome 6 2015-02-23 criteria provided, single submitter research
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute RCV000201707 SCV001427180 pathogenic Joubert syndrome 6 2019-02-10 criteria provided, single submitter clinical testing A heterozygous canonical splice site variant, NM_153704.5(TMEM67):c.2322+2dupT, has been identified in intron 22 of 27 of the TMEM67 gene. The conservation of this nucleotide was very high (UCSC, Phylop), and in silico tools consistently predict this variant to affect splicing (Human splicing Finder, Fruit fly, Netgene2). This duplication variant may result in a truncated protein; further testing via RNA studies are required to confirm if splicing is altered. The variant is present in the gnomAD database at a frequency of 0.00283% (8 heterozygotes, 0 homozygotes). The variant has been previously described as both a VUS and pathogenic in patients with Joubert syndrome (ClinVar). Subsequent analysis of parental samples indicated this variant was paternally inherited. Based on current information, this variant has been classified as PATHOGENIC. NB: This variant has been reclassified as PATHOGENIC due to confirmation of a pathogenic variant in trans.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000050186 SCV000082596 probable-pathogenic Meckel syndrome, type 3 no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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