ClinVar Miner

Submissions for variant NM_000108.5(DLD):c.1436A>T (p.Asp479Val) (rs397514649)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000033216 SCV001406862 likely pathogenic Maple syrup urine disease, type 3 2019-08-15 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with valine at codon 479 of the DLD protein (p.Asp479Val). The aspartic acid residue is highly conserved and there is a large physicochemical difference between aspartic acid and valine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with dihydrolipoamide dehydrogenase deficiency (PMID: 10448086). This variant is also known as p.Asp444Val in the literature. ClinVar contains an entry for this variant (Variation ID: 40186). This variant has been reported to affect DLD protein function (PMID: 21558426, 27544700, 21930696, 17404228). 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.
OMIM RCV000033216 SCV000057068 pathogenic Maple syrup urine disease, type 3 2007-04-10 no assertion criteria provided literature only

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