ClinVar Miner

Submissions for variant NM_015506.3(MMACHC):c.285dup (p.Glu96fs)

dbSNP: rs1553162821
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674067 SCV000799340 likely pathogenic Cobalamin C disease 2018-04-13 criteria provided, single submitter clinical testing
Invitae RCV000674067 SCV001232501 pathogenic Cobalamin C disease 2023-09-12 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: 557871). This premature translational stop signal has been observed in individual(s) with methylmalonic aciduria and homocystinuria (PMID: 19767224). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu96Argfs*9) in the MMACHC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MMACHC are known to be pathogenic (PMID: 16311595).
Fulgent Genetics, Fulgent Genetics RCV000674067 SCV002810486 pathogenic Cobalamin C disease 2021-08-23 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000674067 SCV004178146 likely pathogenic Cobalamin C disease 2023-04-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV000674067 SCV004193197 pathogenic Cobalamin C disease 2023-05-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273217 SCV001456009 pathogenic Methylmalonic acidemia with homocystinuria cblC 2020-09-16 no assertion criteria provided clinical testing

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