ClinVar Miner

Submissions for variant NM_172250.3(MMAA):c.358C>T (p.Gln120Ter)

dbSNP: rs864309727
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000203366 SCV003525711 pathogenic Methylmalonic aciduria, cblA type 2023-08-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 218972). This sequence change creates a premature translational stop signal (p.Gln120*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with methylmalonic aciduria cobalamin A type (PMID: 15781192, 20549364).
Baylor Genetics RCV000203366 SCV004193112 pathogenic Methylmalonic aciduria, cblA type 2023-04-10 criteria provided, single submitter clinical testing
GeneReviews RCV000203366 SCV000258473 not provided Methylmalonic aciduria, cblA type no assertion provided literature only

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