ClinVar Miner

Submissions for variant NM_000355.4(TCN2):c.280G>A (p.Gly94Ser) (rs11557600)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000585117 SCV000605342 likely benign not provided 2017-05-02 criteria provided, single submitter clinical testing The p.Gly94Ser variant (rs11557600) has not been reported in association with any VB12 disorder in medical literature or in gene specific variation databases. This variant is listed in the NHLBI GO Exome Sequencing Project with an overall population frequency of 0.18 percent (identified on 23 out of 13,006 chromosomes) and is listed in the Exome Aggregation Consortium Browser with an overall population frequency of 0.200 percent (identified on 242 out of 120,836 chromosomes). The glycine at position 94 is weakly conserved (Alamut v.2.8.1) and computational analyses of the effects of the p.Gly94Ser variant on protein structure and function indicated a neutral effect (SIFT: tolerated, Align GVGD: C0, PolyPhen-2: benign). Based on these observations, the p.Gly94Ser variant is likely to be benign.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000585117 SCV000693081 likely benign not provided 2017-10-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000624935 SCV000743135 likely benign Transcobalamin II deficiency 2017-06-02 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000624935 SCV000744145 likely benign Transcobalamin II deficiency 2017-07-05 criteria provided, single submitter clinical testing
Invitae RCV000624935 SCV000756653 benign Transcobalamin II deficiency 2017-10-25 criteria provided, single submitter clinical testing
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital RCV000507154 SCV000864382 benign not specified 2017-08-15 criteria provided, single submitter clinical testing BS1, BS2, BP1, BP4; This alteration has an allele frequency that is greater than expected for the associated disease, was seen in a healthy adult where full penetrance of the disorder is expected at an early age, is a missense alteration in a gene for which primarily truncating variants are known to cause disease, and is predicted to be tolerated by multiple functional prediction tools.

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