ClinVar Miner

Submissions for variant NM_001918.5(DBT):c.1217G>T (p.Gly406Val)

gnomAD frequency: 0.00001  dbSNP: rs767154711
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000691390 SCV000819166 uncertain significance Maple syrup urine disease 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces glycine with valine at codon 406 of the DBT protein (p.Gly406Val). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and valine. This variant is present in population databases (rs767154711, ExAC 0.003%). This variant has not been reported in the literature in individuals affected with DBT-related conditions. 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: "Probably 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003330901 SCV004037631 uncertain significance not specified 2023-08-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000691390 SCV004050144 uncertain significance Maple syrup urine disease 2023-04-11 criteria provided, single submitter clinical testing

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