ClinVar Miner

Submissions for variant NC_000003.11:g.(?_15497386)_(15498106_?)del

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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 RCV004582182 SCV005066304 pathogenic Congenital myasthenic syndrome 5 2022-11-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. A similar copy number variant has been observed in individual(s) with congenital myasthenic syndrome (PMID: 27830186). This variant is a gross deletion of the genomic region encompassing exon(s) 14-15 of the COLQ gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in COLQ are known to be pathogenic (PMID: 22678886).

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