ClinVar Miner

Submissions for variant NM_005677.4(COLQ):c.1324_1326del (p.Gln442del)

dbSNP: rs2125077483
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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 RCV002045405 SCV002288728 uncertain significance Congenital myasthenic syndrome 5 2021-01-21 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has been observed in individual(s) with congenital myasthenic syndrome (PMID: 18180250). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as 1324delCAG. This variant is not present in population databases (ExAC no frequency). This variant, c.1324_1326del, results in the deletion of 1 amino acid(s) of the COLQ protein (p.Gln442del), but otherwise preserves the integrity of the reading frame.

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