ClinVar Miner

Submissions for variant NM_005677.4(COLQ):c.176C>A (p.Pro59Gln)

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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 RCV002651643 SCV003525095 likely pathogenic Congenital myasthenic syndrome 5 2022-08-29 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant disrupts the p.Pro59 amino acid residue in COLQ. Other variant(s) that disrupt this residue have been observed in individuals with COLQ-related conditions (PMID: 22088788), which suggests that this may be a clinically significant amino acid residue. Experimental studies have shown that this missense change affects COLQ function (PMID: 10665486). This missense change has been observed in individuals with congenital myasthenic syndrome 5 (PMID: 10665486; Invitae). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with glutamine, which is neutral and polar, at codon 59 of the COLQ protein (p.Pro59Gln).

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