ClinVar Miner

Submissions for variant NM_052845.4(MMAB):c.521C>T (p.Ser174Leu)

gnomAD frequency: 0.00007  dbSNP: rs140881518
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514970 SCV000610289 uncertain significance not provided 2017-09-18 criteria provided, single submitter clinical testing
Counsyl RCV000671507 SCV000796490 uncertain significance Methylmalonic aciduria, cblB type 2017-12-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000671507 SCV002800763 uncertain significance Methylmalonic aciduria, cblB type 2021-10-07 criteria provided, single submitter clinical testing
Invitae RCV000671507 SCV003520215 likely pathogenic Methylmalonic aciduria, cblB type 2024-01-16 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 174 of the MMAB protein (p.Ser174Leu). This variant is present in population databases (rs140881518, gnomAD 0.04%). This missense change has been observed in individual(s) with MMAB-related conditions (PMID: 16410054, 23707710, 34796408; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 445684). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Baylor Genetics RCV000671507 SCV004193137 likely pathogenic Methylmalonic aciduria, cblB type 2023-10-05 criteria provided, single submitter clinical testing
Baumgartner lab, University Children's Hospital Zurich RCV000671507 SCV001738794 pathogenic Methylmalonic aciduria, cblB type 2021-06-01 no assertion criteria provided clinical testing
Natera, Inc. RCV000671507 SCV002088693 uncertain significance Methylmalonic aciduria, cblB type 2020-04-07 no assertion criteria provided clinical testing

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