ClinVar Miner

Submissions for variant NM_052845.4(MMAB):c.398C>T (p.Ser133Phe) (rs749936057)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668683 SCV000793324 uncertain significance Methylmalonic aciduria cblB type 2017-08-10 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000668683 SCV000915575 uncertain significance Methylmalonic aciduria cblB type 2018-11-16 criteria provided, single submitter clinical testing The MMAB c.398C>T (p.Ser133Phe) missense variant has been reported in one study in which it is found in a single compound heterozygous individual with methylmalonic acidemia (Illson et al. 2013). Control data are unavailable for this variant which is reported at a frequency of 0.000017 in the Total population of the Genome Aggregation Database. Based on the limited evidence, the p.Ser133Phe variant is classified as a variant of uncertain significance but suspicious for pathogenicity for methylmalonic acidemia. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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