ClinVar Miner

Submissions for variant NM_001918.5(DBT):c.673A>C (p.Ile225Leu)

gnomAD frequency: 0.00001  dbSNP: rs1472099889
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000821362 SCV000962117 uncertain significance Maple syrup urine disease 2022-07-29 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 225 of the DBT protein (p.Ile225Leu). This variant is present in population databases (no rsID available, gnomAD 0.02%). 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: 663483). 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.
Fulgent Genetics, Fulgent Genetics RCV000821362 SCV002790676 uncertain significance Maple syrup urine disease 2022-01-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000821362 SCV004050163 uncertain significance Maple syrup urine disease 2023-04-11 criteria provided, single submitter clinical testing

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