ClinVar Miner

Submissions for variant NM_172250.3(MMAA):c.503del (p.Thr168fs)

dbSNP: rs864309728
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000203380 SCV002238278 pathogenic Methylmalonic aciduria, cblA type 2023-02-24 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: 218974). This premature translational stop signal has been observed in individual(s) with methylmalonic acidemia (PMID: 15308131, 31622506). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Thr168Metfs*10) 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).
GeneReviews RCV000203380 SCV000258476 not provided Methylmalonic aciduria, cblA type no assertion provided literature only

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