ClinVar Miner

Submissions for variant NM_000355.4(TCN2):c.776G>C (p.Arg259Pro)

gnomAD frequency: 0.63049  dbSNP: rs1801198
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000374451 SCV000437884 benign Transcobalamin II deficiency 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000454394 SCV000540514 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Mendelics RCV000374451 SCV001141403 benign Transcobalamin II deficiency 2019-05-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000374451 SCV001156948 benign Transcobalamin II deficiency 2023-11-29 criteria provided, single submitter clinical testing
Invitae RCV000374451 SCV001728353 benign Transcobalamin II deficiency 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001618205 SCV001844006 benign not provided 2018-07-25 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 12091374, 21975197, 14680986, 19353223, 12107818, 19936946, 22794911, 23099805)
Genome-Nilou Lab RCV000374451 SCV002062279 benign Transcobalamin II deficiency 2021-07-15 criteria provided, single submitter clinical testing
OMIM RCV000000117 SCV000020260 benign TRANSCOBALAMIN II POLYMORPHISM 2007-06-01 no assertion criteria provided literature only
GenomeConnect, ClinGen RCV001618205 SCV002074798 not provided not provided no assertion provided phenotyping only Variant interpreted as Benign and reported on 04-27-2020 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. This variant was reported in an individual referred for clinical diagnostic genetic testing.

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