ClinVar Miner

Submissions for variant NM_005677.4(COLQ):c.1174G>A (p.Asp392Asn)

gnomAD frequency: 0.00002  dbSNP: rs749266800
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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 RCV000545849 SCV000644935 uncertain significance Congenital myasthenic syndrome 5 2022-07-19 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0". The asparagine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 468341). This variant is present in population databases (rs749266800, gnomAD 0.01%). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 392 of the COLQ protein (p.Asp392Asn).
Revvity Omics, Revvity RCV000545849 SCV003828310 uncertain significance Congenital myasthenic syndrome 5 2019-04-11 criteria provided, single submitter clinical testing

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