ClinVar Miner

Submissions for variant NM_172250.3(MMAA):c.124C>T (p.Gln42Ter)

dbSNP: rs758345818
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669805 SCV000794592 likely pathogenic Methylmalonic aciduria, cblA type 2017-10-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000669805 SCV003235309 pathogenic Methylmalonic aciduria, cblA type 2022-09-08 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: 554217). This variant has not been reported in the literature in individuals affected with MMAA-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln42*) 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).

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