ClinVar Miner

Submissions for variant NM_005677.4(COLQ):c.382C>G (p.Pro128Ala)

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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 RCV002786015 SCV003025620 uncertain significance Congenital myasthenic syndrome 5 2022-04-29 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with COLQ-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.009%). This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 128 of the COLQ protein (p.Pro128Ala).
Revvity Omics, Revvity RCV002786015 SCV003829897 uncertain significance Congenital myasthenic syndrome 5 2019-07-09 criteria provided, single submitter clinical testing

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