ClinVar Miner

Submissions for variant NM_005677.4(COLQ):c.377del (p.Gly126fs)

dbSNP: rs759874172
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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 RCV001383387 SCV001582519 pathogenic Congenital myasthenic syndrome 5 2022-10-05 criteria provided, single submitter clinical testing This variant is present in population databases (rs759874172, gnomAD 0.003%). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1071042). This premature translational stop signal has been observed in individuals with congenital myasthenic syndrome (PMID: 22678886, 28024842). This sequence change creates a premature translational stop signal (p.Gly126Alafs*38) 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).
Baylor Genetics RCV001383387 SCV004214459 pathogenic Congenital myasthenic syndrome 5 2023-06-13 criteria provided, single submitter clinical testing

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