ClinVar Miner

Submissions for variant NM_005677.4(COLQ):c.1232A>G (p.His411Arg)

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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 RCV002589325 SCV002942827 uncertain significance Congenital myasthenic syndrome 5 2022-09-13 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 411 of the COLQ protein (p.His411Arg). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt COLQ protein function. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with COLQ-related conditions. 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.

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