ClinVar Miner

Submissions for variant NM_052845.4(MMAB):c.571C>T (p.Arg191Trp) (rs376128990)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000202597 SCV000789983 likely pathogenic Methylmalonic aciduria cblB type 2017-10-09 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000414492 SCV000331820 pathogenic not provided 2015-11-07 criteria provided, single submitter clinical testing
GeneDx RCV000414492 SCV000491107 pathogenic not provided 2016-10-20 criteria provided, single submitter clinical testing The R191W variant in the MMAB gene has been previously reported in association with methylmalonic acidemia (MMA) cblB type (Dobson et al., 2002). Functional analysis found that R191W has decreased enzyme activity compared to wild type (Zhang et al., 2006; Jorge-Finnigan et al., 2013). The R191W variant was not observed with any significant frequency in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. The R191W variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. In summary, we interpret R191W to be a pathogenic variant.
GeneReviews RCV000202597 SCV000258529 pathogenic Methylmalonic aciduria cblB type 2016-01-07 no assertion criteria provided literature only
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000202597 SCV000746327 pathogenic Methylmalonic aciduria cblB type 2017-12-03 criteria provided, single submitter clinical testing
OMIM RCV000202597 SCV000257520 pathogenic Methylmalonic aciduria cblB type 2010-09-01 no assertion criteria provided literature only

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