ClinVar Miner

Submissions for variant NM_015506.3(MMACHC):c.471G>A (p.Trp157Ter)

dbSNP: rs1002571805
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669370 SCV000794117 likely pathogenic Cobalamin C disease 2017-09-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000669370 SCV001588708 pathogenic Cobalamin C disease 2023-10-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp157*) in the MMACHC gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 126 amino acid(s) of the MMACHC protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with cobalamin C deficiency (PMID: 19370762, 26825575). ClinVar contains an entry for this variant (Variation ID: 553844). This variant disrupts a region of the MMACHC protein in which other variant(s) (p.Tyr222*) have been determined to be pathogenic (PMID: 16311595, 19767224, 30157807). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV000669370 SCV004178182 likely pathogenic Cobalamin C disease 2023-04-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV000669370 SCV004193207 pathogenic Cobalamin C disease 2023-02-16 criteria provided, single submitter clinical testing

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