ClinVar Miner

Submissions for variant NM_172250.3(MMAA):c.551dup (p.Cys184fs)

dbSNP: rs1553958159
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670314 SCV000795150 pathogenic Methylmalonic aciduria, cblA type 2017-10-27 criteria provided, single submitter clinical testing
Invitae RCV000670314 SCV003525869 pathogenic Methylmalonic aciduria, cblA type 2023-06-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 554640). This premature translational stop signal has been observed in individual(s) with methylmalonic aciduria due to cobalamin A deficiency (PMID: 23026888, 32754920). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Cys184Trpfs*3) in the MMAA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MMAA are known to be pathogenic (PMID: 15523652, 15781192).
Baylor Genetics RCV000670314 SCV004193115 pathogenic Methylmalonic aciduria, cblA type 2023-03-02 criteria provided, single submitter clinical testing

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