ClinVar Miner

Submissions for variant NM_001918.5(DBT):c.1283C>T (p.Ala428Val)

dbSNP: rs2100761237
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001894695 SCV002136224 uncertain significance Maple syrup urine disease 2021-07-20 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with DBT-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with valine at codon 428 of the DBT protein (p.Ala428Val). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and valine. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site.

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