ClinVar Miner

Submissions for variant NM_005677.4(COLQ):c.106+2_106+10del

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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 RCV002598006 SCV002955790 likely pathogenic Congenital myasthenic syndrome 5 2022-01-31 criteria provided, single submitter clinical testing 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 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. This variant has not been reported in the literature in individuals affected with COLQ-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects a splice site in intron 1 of the COLQ 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 COLQ are known to be pathogenic (PMID: 22678886).
Baylor Genetics RCV002598006 SCV005058493 likely pathogenic Congenital myasthenic syndrome 5 2023-11-19 criteria provided, single submitter clinical testing

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