ClinVar Miner

Submissions for variant NM_015702.3(MMADHC):c.585_588del (p.Arg197fs)

dbSNP: rs2105045491
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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 RCV001958633 SCV002236673 pathogenic Methylmalonic aciduria and homocystinuria type cblD 2021-04-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with MMADHC-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg197Lysfs*4) 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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