ClinVar Miner

Submissions for variant NM_015506.3(MMACHC):c.497dup (p.Pro167fs)

dbSNP: rs1481893137
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672551 SCV000797664 likely pathogenic Cobalamin C disease 2018-02-06 criteria provided, single submitter clinical testing
Baylor Genetics RCV000672551 SCV001162915 pathogenic Cobalamin C disease criteria provided, single submitter clinical testing
Invitae RCV000672551 SCV003007929 pathogenic Cobalamin C disease 2023-12-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro167Alafs*15) in the MMACHC gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 116 amino acid(s) of the MMACHC protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MMACHC-related conditions. ClinVar contains an entry for this variant (Variation ID: 556532). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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 RCV000672551 SCV004178188 likely pathogenic Cobalamin C disease 2023-04-11 criteria provided, single submitter clinical testing

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