ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.1957-899A>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001055847 SCV001220258 likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2019-03-07 criteria provided, single submitter clinical testing This sequence change falls in intron 11 of the MUT gene. It does not directly change the encoded amino acid sequence of the MUT protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has been observed in combination with another MUT variant in individuals affected with methylmalonic aciduria (MMA) (PMID: 17957493, 19862841). This variant is also known as c.1957-898A>G in the literature. Experimental studies have shown that this variant disrupts mRNA splicing due to pseudoexon inclusion from intron 11 (PMID: 19862841). 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.

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