ClinVar Miner

Submissions for variant NM_002454.3(MTRR):c.524C>T (p.Ser175Leu)

gnomAD frequency: 0.31601  dbSNP: rs1532268
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126884 SCV000170413 benign not specified 2013-08-26 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.
Illumina Laboratory Services, Illumina RCV000405120 SCV000458431 benign Disorders of Intracellular Cobalamin Metabolism 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.
Invitae RCV001274256 SCV001720712 benign Methylcobalamin deficiency type cblE 2024-02-01 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001274256 SCV001745280 benign Methylcobalamin deficiency type cblE 2021-06-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001274256 SCV002014292 benign Methylcobalamin deficiency type cblE 2021-09-05 criteria provided, single submitter clinical testing
Department of Pharmacy and Biotechnology, University of Bologna RCV000144927 SCV000187684 uncertain significance Gastrointestinal stromal tumor no assertion criteria provided case-control
Natera, Inc. RCV001274256 SCV001458142 benign Methylcobalamin deficiency type cblE 2020-09-16 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000126884 SCV001920621 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000126884 SCV001963155 benign not specified no assertion criteria provided clinical testing

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