ClinVar Miner

Submissions for variant NM_052845.4(MMAB):c.625G>A (p.Val209Met)

gnomAD frequency: 0.00001  dbSNP: rs200903284
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000277473 SCV000336947 uncertain significance not provided 2015-11-07 criteria provided, single submitter clinical testing
Invitae RCV001211421 SCV001382962 pathogenic Methylmalonic aciduria, cblB type 2023-11-17 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 209 of the MMAB protein (p.Val209Met). This variant is present in population databases (rs200903284, gnomAD 0.007%). This missense change has been observed in individual(s) with cblB-type methylmalonic aciduria (PMID: 34796408; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 284356). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt MMAB protein function with a negative predictive value of 80%. For these reasons, this variant has been classified as Pathogenic.
Baumgartner lab, University Children's Hospital Zurich RCV001211421 SCV001738805 pathogenic Methylmalonic aciduria, cblB type 2021-06-01 no assertion criteria provided clinical testing
Natera, Inc. RCV001211421 SCV002088684 uncertain significance Methylmalonic aciduria, cblB type 2020-08-10 no assertion criteria provided clinical testing

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