ClinVar Miner

Submissions for variant NM_015702.3(MMADHC):c.692T>A (p.Leu231Ter)

dbSNP: rs2105042210
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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 RCV001982023 SCV002208282 pathogenic Methylmalonic aciduria and homocystinuria type cblD 2020-11-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminus of the MMADHC protein. Other variant(s) that disrupt this region (p.Arg250*) have been determined to be pathogenic (PMID: 18385497, 27252276, 28939051, 29620684). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.Leu231*) in the MMADHC gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 66 amino acid(s) of the MMADHC protein.

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