ClinVar Miner

Submissions for variant NM_052845.4(MMAB):c.656A>G (p.Tyr219Cys) (rs765547005)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000424166 SCV000520445 uncertain significance not provided 2017-07-20 criteria provided, single submitter clinical testing The Y219C variant has previously been reported in association with methylmalonic acidemia (MMA), cblB type in two individuals who were also heterozygous for two other variants in the MMAB gene; the phase of these variants was not determined (Lerner-Ellis et al., 2006). The Y219C 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 in mammals. In silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Counsyl RCV000203386 SCV000800739 uncertain significance Vitamin B12-responsive methylmalonic acidemia type cblB 2018-01-04 criteria provided, single submitter clinical testing
GeneReviews RCV000203386 SCV000258531 pathogenic Vitamin B12-responsive methylmalonic acidemia type cblB 2016-01-07 no assertion criteria provided literature only

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