ClinVar Miner

Submissions for variant NM_001918.5(DBT):c.884A>G (p.Lys295Arg)

gnomAD frequency: 0.00001  dbSNP: rs139216072
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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 RCV002000815 SCV002269260 uncertain significance Maple syrup urine disease 2021-09-02 criteria provided, single submitter clinical testing This sequence change replaces lysine with arginine at codon 295 of the DBT protein (p.Lys295Arg). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and arginine. This variant is present in population databases (rs139216072, ExAC 0.004%). This variant has not been reported in the literature in individuals affected with DBT-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt DBT 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.

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