ClinVar Miner

Submissions for variant NM_015702.3(MMADHC):c.433A>T (p.Arg145Ter)

gnomAD frequency: 0.00002  dbSNP: rs1431992617
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001974702 SCV002209763 pathogenic Methylmalonic aciduria and homocystinuria type cblD 2023-01-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg145*) in the MMADHC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MMADHC are known to be pathogenic (PMID: 18385497). This variant is present in population databases (no rsID available, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with MMADHC-related conditions. ClinVar contains an entry for this variant (Variation ID: 1436154). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001974702 SCV004193222 pathogenic Methylmalonic aciduria and homocystinuria type cblD 2023-10-12 criteria provided, single submitter clinical testing

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