ClinVar Miner

Submissions for variant NM_198129.3(LAMA3):c.9511+1G>A (rs1296034886)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667395 SCV000791832 pathogenic Junctional epidermolysis bullosa gravis of Herlitz 2017-05-24 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000667395 SCV000919566 pathogenic Junctional epidermolysis bullosa gravis of Herlitz 2017-09-18 criteria provided, single submitter clinical testing Variant summary: The LAMA3 c.4684+1G>A variant (also known as 4651+1G>A) involves the alteration of a conserved intronic nucleotide. One in silico tool predicts a damaging outcome for this variant. 4/5 splice prediction tools predict the complete loss of a canonical splice donor site. These predictions have been confirmed by immunoblotting of cell lysates from cultured keratinocytes derived from a patient showing the amount of chain expressed by the patient was <2% of normal (Gostynska_2017). This variant was found in 1/246262 control chromosomes at a frequency of 0.0000041, which does not exceed the estimated maximal expected allele frequency of a pathogenic LAMA3 variant (0.0004523). In addition, the variant has been reported in multiple affected individuals in the literature. Taken together, this variant is classified as pathogenic.

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.