ClinVar Miner

Submissions for variant NM_052845.4(MMAB):c.563_577dup (p.Val188_Ala192dup) (rs1555274496)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186021 SCV000238983 pathogenic not provided 2014-04-18 criteria provided, single submitter clinical testing The c.563_577dupTGTGCCGCCGGGCCG, the normal sequence with the bases that are duplicated in braces is: GCCG{TGTGCCGCCGGGCCG}AGAGAC. mutation in the MMAB gene has been reported previously in association with vitamin-B12 responsive methylmalonic acidemia (MMA) in a patient who presented with symptoms at day 7 of life (Lerner-Ellis et al., 2006). Mutation occurs in the active site of the MMAB enzyme (Lerner-Ellis et al., 2006). The c.563_577dupTGTGCCGCCGGGCCG mutation results in a insertion of 5 amino acids, denoted p.Val188_Ala192dup. The variant is found in MMAB panel(s).
Counsyl RCV000669812 SCV000794600 likely pathogenic Methylmalonic aciduria cblB type 2017-10-03 criteria provided, single submitter clinical testing

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