ClinVar Miner

Submissions for variant NM_015506.3(MMACHC):c.315C>G (p.Tyr105Ter)

dbSNP: rs528744719
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669305 SCV000794047 pathogenic Cobalamin C disease 2017-09-13 criteria provided, single submitter clinical testing
Baylor Genetics RCV000669305 SCV004193198 pathogenic Cobalamin C disease 2024-01-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000669305 SCV004292317 pathogenic Cobalamin C disease 2024-03-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr105*) 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 aciduria and homocystinuria (PMID: 20631720, 29731766, 31998365). ClinVar contains an entry for this variant (Variation ID: 553788). For these reasons, this variant has been classified as Pathogenic.

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