ClinVar Miner

Submissions for variant NM_015506.3(MMACHC):c.122dup (p.Pro42fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005198012 SCV005834154 pathogenic Cobalamin C disease 2024-10-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro42Thrfs*19) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with methylmalonic aciduria and homocystinuria (PMID: 19370762). For these reasons, this variant has been classified as Pathogenic.

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