ClinVar Miner

Submissions for variant NM_000108.5(DLD):c.826A>T (p.Thr276Ser) (rs148873419)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000185857 SCV000238808 uncertain significance not provided 2018-08-09 criteria provided, single submitter clinical testing p.Thr276Ser (ACA>TCA): c.826 A>T in exon 9 of the DLD gene (NM_000108.3) Mitochondrial disorders caused by mutations in the DLD gene are inherited in an autosomal recessive fashion.The T276S missense change has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The amino acid change is conservative in that both Threonine and Serine are uncharged, polar amino acids. This change occurs at a highly conserved position in the DLD protein and multiple in-silico analysis models predict that T276S is damaging to the DLD protein. Therefore, based on the currently available information it is unclear whether T276S is a disease-causing mutation or a rare benign variant. The variant is found in MITONUC-MITOP panel(s).
Invitae RCV001086452 SCV001035246 likely benign Maple syrup urine disease, type 3 2019-12-31 criteria provided, single submitter clinical testing

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