ClinVar Miner

Submissions for variant NM_001918.4(DBT):c.1202T>C (p.Ile401Thr) (rs1449113689)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668260 SCV000792833 uncertain significance Maple syrup urine disease 2017-07-18 criteria provided, single submitter clinical testing
Invitae RCV000668260 SCV001575139 likely pathogenic Maple syrup urine disease 2020-09-09 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 401 of the DBT protein (p.Ile401Thr). The isoleucine residue is highly conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with maple syrup urine disease (PMID: 19480318). ClinVar contains an entry for this variant (Variation ID: 552910). 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 expected to disrupt DBT protein function. 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.

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