ClinVar Miner

Submissions for variant NM_015702.3(MMADHC):c.419dup (p.Tyr140Ter)

gnomAD frequency: 0.00002  dbSNP: rs397509363
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000000804 SCV001587705 pathogenic Methylmalonic aciduria and homocystinuria type cblD 2023-03-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 768). This premature translational stop signal has been observed in individual(s) with MMADHC-related conditions (PMID: 18385497). This variant is present in population databases (rs397509363, gnomAD 0.004%). This sequence change creates a premature translational stop signal (p.Tyr140*) 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).
Revvity Omics, Revvity RCV000000804 SCV003819541 pathogenic Methylmalonic aciduria and homocystinuria type cblD 2022-06-03 criteria provided, single submitter clinical testing
Baylor Genetics RCV000000804 SCV004193226 pathogenic Methylmalonic aciduria and homocystinuria type cblD 2023-09-01 criteria provided, single submitter clinical testing
OMIM RCV000000804 SCV000020954 pathogenic Methylmalonic aciduria and homocystinuria type cblD 2008-04-03 no assertion criteria provided literature only
Natera, Inc. RCV000000804 SCV002083919 pathogenic Methylmalonic aciduria and homocystinuria type cblD 2020-09-04 no assertion criteria provided clinical testing

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