ClinVar Miner

Submissions for variant NM_001918.5(DBT):c.296G>A (p.Cys99Tyr)

dbSNP: rs1557956678
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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 RCV002010688 SCV002291214 uncertain significance Maple syrup urine disease 2021-11-02 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with maple syrup urine disease (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 99 of the DBT protein (p.Cys99Tyr). 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 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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