ClinVar Miner

Submissions for variant NM_005677.4(COLQ):c.117C>A (p.Ser39Arg)

gnomAD frequency: 0.00009  dbSNP: rs138891500
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194904 SCV000247085 uncertain significance not specified 2015-04-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001039579 SCV001203111 uncertain significance Congenital myasthenic syndrome 5 2022-03-09 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 39 of the COLQ protein (p.Ser39Arg). This variant is present in population databases (rs138891500, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with COLQ-related conditions. ClinVar contains an entry for this variant (Variation ID: 210754). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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