ClinVar Miner

Submissions for variant NM_001918.5(DBT):c.5C>T (p.Ala2Val)

gnomAD frequency: 0.00001  dbSNP: rs398123672
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079949 SCV000111832 uncertain significance not provided 2015-06-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000631893 SCV000752996 uncertain significance Maple syrup urine disease 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 2 of the DBT protein (p.Ala2Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with DBT-related conditions. ClinVar contains an entry for this variant (Variation ID: 94007). 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: "Benign"; 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.
Centre for Inherited Metabolic Diseases, Karolinska University Hospital RCV000631893 SCV001431776 likely pathogenic Maple syrup urine disease 2020-06-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000631893 SCV002033182 uncertain significance Maple syrup urine disease 2021-11-07 criteria provided, single submitter clinical testing

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