ClinVar Miner

Submissions for variant NM_001918.5(DBT):c.165AAC[1] (p.Thr57del)

dbSNP: rs771945254
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665578 SCV000789724 uncertain significance Maple syrup urine disease 2017-02-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000665578 SCV001564199 uncertain significance Maple syrup urine disease 2022-09-18 criteria provided, single submitter clinical testing This variant, c.168_170del, results in the deletion of 1 amino acid(s) of the DBT protein (p.Thr57del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs771945254, gnomAD 0.06%). 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: 550746). 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.
Genome-Nilou Lab RCV000665578 SCV004050178 uncertain significance Maple syrup urine disease 2023-04-11 criteria provided, single submitter clinical testing

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