ClinVar Miner

Submissions for variant NM_153704.6(TMEM67):c.1674+1G>A

dbSNP: rs1211156516
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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 RCV002047102 SCV002111580 likely pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-08-08 criteria provided, single submitter clinical testing Disruption of this splice site has been observed in individual(s) with Meckel-Gruber syndrome (PMID: 23351400). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1349674). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 16 of the TMEM67 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in TMEM67 are known to be pathogenic (PMID: 20232449, 23559409).

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