ClinVar Miner

Submissions for variant NM_005677.4(COLQ):c.640G>T (p.Glu214Ter)

gnomAD frequency: 0.00001  dbSNP: rs104893733
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000007028 SCV000948360 pathogenic Congenital myasthenic syndrome 5 2022-02-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Glu214*) 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 (rs104893733, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with congenital myasthenic syndrome (PMID: 9689136; 29054425).). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 6649).
Baylor Genetics RCV000007028 SCV005058488 pathogenic Congenital myasthenic syndrome 5 2024-01-18 criteria provided, single submitter clinical testing
OMIM RCV000007028 SCV000027224 pathogenic Congenital myasthenic syndrome 5 1998-08-04 no assertion criteria provided literature only

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