ClinVar Miner

Submissions for variant NM_000108.5(DLD):c.470C>G (p.Thr157Ser) (rs142232609)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000793434 SCV000932786 uncertain significance Maple syrup urine disease, type 3 2018-12-19 criteria provided, single submitter clinical testing This sequence change replaces threonine with serine at codon 157 of the DLD protein (p.Thr157Ser). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and serine. This variant is present in population databases (rs142232609, ExAC 0.03%). This variant has not been reported in the literature in individuals with DLD-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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