ClinVar Miner

Submissions for variant NM_005677.4(COLQ):c.844A>T (p.Arg282Ter)

dbSNP: rs121908922
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000007030 SCV005058482 pathogenic Congenital myasthenic syndrome 5 2024-03-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000007030 SCV005777314 pathogenic Congenital myasthenic syndrome 5 2024-04-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg282*) 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 present in population databases (rs121908922, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with endplate acetylcholinesterase deficiency (PMID: 9689136). ClinVar contains an entry for this variant (Variation ID: 6651). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000007030 SCV000027226 pathogenic Congenital myasthenic syndrome 5 1998-08-04 no assertion criteria provided literature only

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