ClinVar Miner

Submissions for variant NM_005677.4(COLQ):c.1111C>T (p.Gln371Ter)

dbSNP: rs2125085542
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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 RCV001382536 SCV001581370 pathogenic Congenital myasthenic syndrome 5 2020-10-08 criteria provided, single submitter clinical testing Experimental studies have shown that this variant affects COLQ protein function (PMID: 10665486). 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 been observed in individual(s) with clinical features of congenital myasthenic syndrome (PMID: 10665486). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln371*) in the COLQ gene. It is expected to result in an absent or disrupted protein product.

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