ClinVar Miner

Submissions for variant NM_005677.4(COLQ):c.718G>T (p.Gly240Ter)

dbSNP: rs104893735
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000007036 SCV003525116 pathogenic Congenital myasthenic syndrome 5 2022-03-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 6657). This premature translational stop signal has been observed in individual(s) with congenital myasthenic syndrome (PMID: 11865139, 28024842). This variant is present in population databases (rs104893735, gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gly240*) 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).
OMIM RCV000007036 SCV000027232 pathogenic Congenital myasthenic syndrome 5 2002-02-26 no assertion criteria provided literature only

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