ClinVar Miner

Submissions for variant NM_133259.4(LRPPRC):c.4128del (p.Glu1377fs) (rs759052246)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000490392 SCV000267390 uncertain significance Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 2016-03-18 criteria provided, single submitter reference population
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000825952 SCV000967437 uncertain significance not specified 2018-09-12 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The p.Glu1377Ly sfsX10 variant in LRPPRC has not been previously reported in the literature but has been reported in ClinVar (Variation ID #225408). This variant has been ident ified in 0.19% (36/18864) of East Asian chromosomes by the Genome Aggregation Da tabase (gnomAD, This variant is predicted to cause a frameshift, which alters the protein?s amino acid sequence beginning at position 1377 and leads to a premature termination codon 10 amino acids downstre am. This termination codon occurs within the last exon and is, therefore, likely to escape nonsense mediated decay (NMD) and result in a truncated protein. In s ummary, while there is some suspicion for a pathogenic role, the clinical signif icance of the p.Glu1377LysfsX10 variant is uncertain. ACMG/AMP Criteria applied: PM2_Supporting, PVS1_Moderate.
Baylor Genetics RCV000490392 SCV001162953 pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 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.