ClinVar Miner

Submissions for variant NM_015506.3(MMACHC):c.599G>A (p.Trp200Ter)

dbSNP: rs1399932916
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001389512 SCV001590904 pathogenic Cobalamin C disease 2022-04-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the MMACHC protein in which other variant(s) (p.Tyr222*) have been determined to be pathogenic (PMID: 16311595, 19767224, 30157807). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 1075815). This premature translational stop signal has been observed in individual(s) with methylmalonic aciduria and homocystinuria (PMID: 30157807). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp200*) in the MMACHC gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 83 amino acid(s) of the MMACHC protein.
Baylor Genetics RCV001389512 SCV004193168 pathogenic Cobalamin C disease 2023-10-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV001389512 SCV002089549 pathogenic Cobalamin C disease 2021-07-30 no assertion criteria provided clinical testing

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