ClinVar Miner

Submissions for variant NM_001918.4(DBT):c.872G>T (p.Arg291Leu) (rs775808731)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000535685 SCV000627815 likely pathogenic Maple syrup urine disease 2019-06-19 criteria provided, single submitter clinical testing This sequence change replaces arginine with leucine at codon 291 of the DBT protein (p.Arg291Leu). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and leucine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a DBT-related disease. This variant has been observed to co-occur in trans (on opposite chromosomes) with another DBT variant in an individual with biochemical findings that are highly specific for Maple Syrup Urine Disease (Invitae). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Probably Damaging; Align-GVGD: Class C0). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Counsyl RCV000535685 SCV000799158 uncertain significance Maple syrup urine disease 2018-04-10 criteria provided, single submitter clinical testing

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