ClinVar Miner

Submissions for variant NM_015702.3(MMADHC):c.538C>T (p.Gln180Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003494642 SCV004293391 pathogenic Methylmalonic aciduria and homocystinuria type cblD 2023-09-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with cobalamin D deficiency (PMID: 33552904). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln180*) 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).

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