ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.1663G>A (p.Ala555Thr) (rs753564352)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186050 SCV000239014 likely pathogenic not provided 2013-12-19 criteria provided, single submitter clinical testing The variant p.Ala555Thr (A555T:GCA>ACA): c.1663 G>A in exon 9 of the MUT gene (NM_000255.3) is a missense change that is likely pathogenic. It has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The amino acid change is non-conservative in that a non-polar Alanine residue is replaced by a polar Threonine residue. This change occurs at a highly conserved position in the MUT protein, and missense mutations at nearby positions (A535P, C560Y) have been reported in association with methylmalonic acidemia. Furthermore, multiple in-silico analysis programs predict that A555T is damaging to the MUT protein. Therefore, A555T is a strong candidate for a disease-causing mutation, however the possibility that it is a benign variant cannot be excluded. The variant is found in MMA-MET panel(s).
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital RCV000210837 SCV000267122 pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2013-05-05 no assertion criteria provided research

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