ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.1084-1_1084delinsTT

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud RCV005250477 SCV005900521 likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2024-11-18 criteria provided, single submitter clinical testing The patient has a compound heterozygous variant; other variant is MMUT: c.785G>A. These variants may impact enzyme function, potentially leading to altered methylmalonic acid metabolism. Based on ACMG/AMP guidelines, these variants should be evaluated for criteria such as PM3 (for compound heterozygosity), PP3 (in silico predictions), and any functional studies supporting pathogenicity. Further clinical correlation and segregation analysis are recommended to clarify their significance

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