ClinVar Miner

Submissions for variant NM_005677.4(COLQ):c.107-1G>A

dbSNP: rs1269227357
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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 RCV000811905 SCV000952195 likely pathogenic Congenital myasthenic syndrome 5 2021-09-15 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 1 of the COLQ gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. 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 is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with COLQ-related disease. Donor and acceptor splice site variants 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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