ClinVar Miner

Submissions for variant NM_172250.3(MMAA):c.1075C>T (p.Arg359Ter) (rs999844958)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000552652 SCV000641765 pathogenic Vitamin B12-responsive methylmalonic acidemia type cblA 2016-12-22 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the last exon of the MMAA mRNA at codon 359 (p.Arg359*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 60 amino acids of the MMAA protein. Loss-of-function variants in MMAA are known to be pathogenic. This particular variant has been observed as compound heterozygous in patients affected with methylmalonic aciduria (PMID: 23026888, Invitae). In addition, other truncating variants downstream of this codon have been reported in individuals affected with methylmalonic aciduria, indicating the clinical significance of this region (PMID: 23026888, 15523652). For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000552652 SCV000796871 pathogenic Vitamin B12-responsive methylmalonic acidemia type cblA 2018-01-03 no assertion criteria provided clinical testing

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