ClinVar Miner

Submissions for variant NM_015506.3(MMACHC):c.2T>C (p.Met1Thr)

dbSNP: rs574983400
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672157 SCV000797231 likely pathogenic Cobalamin C disease 2018-01-17 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000672157 SCV002023487 likely pathogenic Cobalamin C disease 2019-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000672157 SCV004178124 likely pathogenic Cobalamin C disease 2023-04-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV000672157 SCV004193192 likely pathogenic Cobalamin C disease 2023-05-23 criteria provided, single submitter clinical testing
Invitae RCV000672157 SCV004638844 pathogenic Cobalamin C disease 2023-10-26 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the MMACHC mRNA. The next in-frame methionine is located at codon 58. This variant is not present in population databases (gnomAD no frequency). Disruption of the initiator codon has been observed in individuals with combined methylmalonic aciduria and homocystinuria (PMID: 16311595, 18164228, 19760748). ClinVar contains an entry for this variant (Variation ID: 556190). For these reasons, this variant has been classified as Pathogenic.

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