ClinVar Miner

Submissions for variant NM_015702.3(MMADHC):c.295_296del (p.Leu99fs)

dbSNP: rs1573878695
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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 RCV000791752 SCV000931013 pathogenic Methylmalonic aciduria and homocystinuria type cblD 2018-11-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu99Alafs*2) in the MMADHC gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MMADHC-related disease. Loss-of-function variants in MMADHC are known to be pathogenic (PMID: 18385497). For these reasons, this variant has been classified as Pathogenic.

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