ClinVar Miner

Submissions for variant NM_000228.3(LAMB3):c.2554A>T (p.Met852Leu)

gnomAD frequency: 0.11215  dbSNP: rs12748250
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000245176 SCV000303075 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000359939 SCV000353609 benign Junctional epidermolysis bullosa 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000245176 SCV000917569 benign not specified 2018-08-06 criteria provided, single submitter clinical testing Variant summary: LAMB3 c.2554A>T (p.Met852Leu) results in a conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.13 in 275034 control chromosomes in the gnomAD database, including 2706 homozygotes (gnomAD). The observed variant frequency is approximately 135-folds higher than the estimated maximal expected allele frequency for a pathogenic variant in LAMB3 causing Junctional Epidermolysis Bullosa phenotype (0.00093), strongly suggesting that the variant is benign. A ClinVar submission from another clinical diagnostic laboratory (evaluation after 2014) cites the variant as benign. Based on the evidence outlined above, the variant was classified as benign.
Invitae RCV001511724 SCV001719016 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001537657 SCV001754586 benign Junctional epidermolysis bullosa, non-Herlitz type 2021-07-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001537781 SCV001754738 benign Amelogenesis imperfecta type 1A 2021-07-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001537782 SCV001754739 benign Junctional epidermolysis bullosa gravis of Herlitz 2021-07-08 criteria provided, single submitter clinical testing
GeneDx RCV001511724 SCV001939624 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.