ClinVar Miner

Submissions for variant NM_052845.4(MMAB):c.402G>A (p.Ser134=) (rs756766385)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000815261 SCV000955710 uncertain significance Vitamin B12-responsive methylmalonic acidemia type cblB 2019-05-14 criteria provided, single submitter clinical testing This sequence change affects codon 134 of the MMAB mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the MMAB protein. This variant is present in population databases (rs756766385, ExAC 0.05%). This variant has not been reported in the literature in individuals with MMAB-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV000815261 SCV001459240 uncertain significance Vitamin B12-responsive methylmalonic acidemia type cblB 2020-09-16 no assertion criteria provided clinical testing
GenomeConnect - Invitae Patient Insights Network RCV000815261 SCV001749687 not provided Vitamin B12-responsive methylmalonic acidemia type cblB no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 08-28-2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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