ClinVar Miner

Submissions for variant NM_000355.4(TCN2):c.921A>C (p.Pro307=) (rs138738105)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000351982 SCV000437889 uncertain significance Transcobalamin II deficiency 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000756755 SCV000756655 likely benign not provided 2018-12-18 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756755 SCV000884661 likely benign not provided 2017-12-04 criteria provided, single submitter clinical testing The p.Pro307Pro variant (rs138738105) does not alter the amino acid sequence of the TCN2 protein and computational splice site prediction algorithms do not predict a change in the nearest splice site or creation of a cryptic splice site (Alamut v2.10). This variant has not been reported in association with megaloblastic anemia in medical literature or in gene specific variation databases. This variant is listed in the Genome Aggregation Database (gnomAD) with a frequency of 0.2 percent in the South Asian population (identified on 49 out of 30,782 chromosomes), and has been reported to the ClinVar database (Variation ID: 341206). Based on these observations, the p.Pro307Pro variant is likely to be benign.

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