ClinVar Miner

Submissions for variant NM_001918.5(DBT):c.61C>T (p.Arg21Cys)

gnomAD frequency: 0.00001  dbSNP: rs398123673
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079950 SCV000111833 uncertain significance not provided 2013-09-04 criteria provided, single submitter clinical testing
Counsyl RCV000670564 SCV000795430 uncertain significance Maple syrup urine disease 2017-11-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000670564 SCV002033188 uncertain significance Maple syrup urine disease 2021-11-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000670564 SCV003481680 uncertain significance Maple syrup urine disease 2022-03-11 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 21 of the DBT protein (p.Arg21Cys). This variant is present in population databases (rs398123673, 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: 94008). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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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