ClinVar Miner

Submissions for variant NM_001953.5(TYMP):c.1412C>T (p.Ser471Leu) (rs11479)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000118807 SCV000169701 benign not specified 2011-07-07 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.
PreventionGenetics,PreventionGenetics RCV000118807 SCV000308565 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000403000 SCV000439307 benign Mitochondrial DNA depletion syndrome 1 (MNGIE type) 2018-03-06 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 Clinical Services Laboratory,Illumina RCV000323507 SCV000484000 benign Fatal Infantile Cardioencephalomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000676456 SCV000844821 benign not provided 2018-07-10 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282557 SCV000884821 benign none provided 2020-08-25 criteria provided, single submitter clinical testing
Invitae RCV000676456 SCV001731574 benign not provided 2020-12-05 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118807 SCV000153454 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
GeneReviews RCV000403000 SCV000264494 benign Mitochondrial DNA depletion syndrome 1 (MNGIE type) 2016-01-14 no assertion criteria provided literature only
Mayo Clinic Laboratories, Mayo Clinic RCV000676456 SCV000802238 benign not provided 2016-02-23 no assertion criteria provided clinical testing
Natera, Inc. RCV001274279 SCV001458250 benign Spinal muscular atrophy 2020-09-16 no assertion criteria provided clinical testing

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