ClinVar Miner

Submissions for variant NM_006996.3(SLC19A2):c.796G>A (p.Val266Met)

gnomAD frequency: 0.00758  dbSNP: rs75099879
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000272929 SCV000350516 benign Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina RCV000325732 SCV000350517 uncertain significance Thiamine-responsive megaloblastic anemia 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000440688 SCV000518818 benign not specified 2016-03-21 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Personalized Diabetes Medicine Program, University of Maryland School of Medicine RCV000445536 SCV000536953 benign Monogenic diabetes 2018-01-02 criteria provided, single submitter research ACMG criteria: PP3 (2 predictors), BP4 (9 predictors), BS1 (2.51% in ExAC African population), BS2 (10 homozygotes in gnomAD), BP6 (GeneDx calls benign)=benign
Invitae RCV000894413 SCV001038397 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000440688 SCV002066272 benign not specified 2021-06-25 criteria provided, single submitter clinical testing

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