ClinVar Miner

Submissions for variant NM_001918.5(DBT):c.365A>G (p.Tyr122Cys)

gnomAD frequency: 0.00001  dbSNP: rs727503896
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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) RCV000153139 SCV000202600 uncertain significance not provided 2014-02-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002516075 SCV003487975 pathogenic Maple syrup urine disease 2024-02-08 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 122 of the DBT protein (p.Tyr122Cys). This variant is present in population databases (rs727503896, gnomAD 0.01%). This missense change has been observed in individual(s) with maple syrup urine disease (PMID: 34069211; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 166984). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on DBT protein function. For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV002516075 SCV003834263 uncertain significance Maple syrup urine disease 2020-12-03 criteria provided, single submitter clinical testing
Baylor Genetics RCV004567174 SCV005059344 likely pathogenic Maple syrup urine disease type 1A 2024-03-23 criteria provided, single submitter clinical testing

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