ClinVar Miner

Submissions for variant NM_005677.4(COLQ):c.847G>T (p.Gly283Ter)

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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 RCV003619006 SCV004540330 pathogenic Congenital myasthenic syndrome 5 2023-11-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly283*) in the COLQ gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COLQ are known to be pathogenic (PMID: 22678886). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of congenital myasthenic syndrome (PMID: 30124556). For these reasons, this variant has been classified as Pathogenic.

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