ClinVar Miner

Submissions for variant NM_005559.4(LAMA1):c.7181G>A (p.Arg2394Gln)

gnomAD frequency: 0.00025  dbSNP: rs140792199
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
Baylor Genetics RCV001329427 SCV001520868 uncertain significance Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 2019-12-06 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV004639573 SCV005137240 uncertain significance Inborn genetic diseases 2024-04-08 criteria provided, single submitter clinical testing The c.7181G>A (p.R2394Q) alteration is located in exon 50 (coding exon 50) of the LAMA1 gene. This alteration results from a G to A substitution at nucleotide position 7181, causing the arginine (R) at amino acid position 2394 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.