ClinVar Miner

Submissions for variant NM_172250.3(MMAA):c.1084C>T (p.Gln362Ter) (rs1560802980)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000699106 SCV000827801 likely pathogenic Methylmalonic aciduria cblA type 2018-05-24 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the MMAA gene (p.Gln362*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 57 amino acids of the MMAA protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with methylmalonic aciduria (PMID: 23026888). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. The observation of one missense substitution downstream of this variant (p.Gly399Val) in affected individuals suggests that this may be a clinically significant region of the MMAA protein (PMID: 28497574). 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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