ClinVar Miner

Submissions for variant NM_001918.5(DBT):c.538C>G (p.Leu180Val)

dbSNP: rs2100804291
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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 RCV001975814 SCV002248178 uncertain significance Maple syrup urine disease 2021-07-12 criteria provided, single submitter clinical testing 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. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with valine at codon 180 of the DBT protein (p.Leu180Val). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and valine.

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