ClinVar Miner

Submissions for variant NM_005677.4(COLQ):c.366+1G>C

dbSNP: rs2125123160
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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 RCV002040716 SCV002299742 likely pathogenic Congenital myasthenic syndrome 5 2021-05-20 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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 with COLQ-related conditions. This sequence change affects a donor splice site in intron 4 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).

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