ClinVar Miner

Submissions for variant NM_015506.3(MMACHC):c.178dup (p.Asp60fs)

dbSNP: rs1570829757
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001004150 SCV001162894 likely pathogenic Cobalamin C disease criteria provided, single submitter clinical testing
Invitae RCV001004150 SCV004245904 pathogenic Cobalamin C disease 2024-01-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp60Glyfs*18) 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 combined methylmalonic academia and homocystinuria, cobalamin C type (PMID: 33691766). ClinVar contains an entry for this variant (Variation ID: 813348). For these reasons, this variant has been classified as Pathogenic.

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