ClinVar Miner

Submissions for variant NM_172250.3(MMAA):c.1075C>T (p.Arg359Ter)

gnomAD frequency: 0.00002  dbSNP: rs999844958
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000552652 SCV000641765 pathogenic Methylmalonic aciduria, cblA type 2024-01-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg359*) in the MMAA gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 60 amino acid(s) of the MMAA protein. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with methylmalonic aciduria (PMID: 23026888; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 466216). This variant disrupts the C-terminus of the MMAA protein. Other variant(s) that disrupt this region (p.Gln362*, p.Lys364Serfs*51) have been observed in individuals with MMAA-related conditions (PMID: 15523652, 23026888). This suggests that this may be a clinically significant region of the protein. For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV000552652 SCV002017503 pathogenic Methylmalonic aciduria, cblA type 2021-06-19 criteria provided, single submitter clinical testing
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV000552652 SCV002562209 pathogenic Methylmalonic aciduria, cblA type criteria provided, single submitter clinical testing
Baylor Genetics RCV000552652 SCV004193087 pathogenic Methylmalonic aciduria, cblA type 2023-10-21 criteria provided, single submitter clinical testing
Counsyl RCV000552652 SCV000796871 pathogenic Methylmalonic aciduria, cblA type 2018-01-03 no assertion criteria provided clinical testing
Natera, Inc. RCV000552652 SCV001452014 pathogenic Methylmalonic aciduria, cblA type 2020-09-16 no assertion criteria provided clinical testing

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