ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.329A>G (p.Tyr110Cys) (rs796052005)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186053 SCV000239017 pathogenic not provided 2017-06-12 criteria provided, single submitter clinical testing A Y110C missense change was identified in the MUT gene. It has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. It has been seen in other unrelated individuls at GeneDx. The Y110C variant occurs at a highly conserved position in the methylmalonyl-CoA mutase protein and results in the disruption of a ligand binding site in the protein. Multiple missense variant in neighboring codons (Y100C, W105R, R108C, R108A, R108H, Q109R) have been reported in association with methylmalonic acidemia (MMA). Furthermore, three in silico models predict that Y110C is not tolerated in the resultant protein. Therefore, we consider Y110C to be a disease associated variant.
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City RCV001027998 SCV001190758 pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2020-02-05 no assertion criteria provided clinical testing

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