ClinVar Miner

Submissions for variant NM_005677.4(COLQ):c.588del (p.Gly198fs)

dbSNP: rs1559519107
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
University of Malaya Medical Center, University of Malaya RCV000735875 SCV000864008 pathogenic Congenital myasthenic syndrome 5 2018-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000735875 SCV000938341 pathogenic Congenital myasthenic syndrome 5 2018-07-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in COLQ are known to be pathogenic (PMID: 22678886). This variant has not been reported in the literature in individuals with COLQ-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gly198Glufs*26) in the COLQ gene. It is expected to result in an absent or disrupted protein product.

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