ClinVar Miner

Submissions for variant NM_133259.4(LRPPRC):c.4132A>G (p.Ser1378Gly) (rs149693840)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000767148 SCV000251664 uncertain significance not provided 2018-08-14 criteria provided, single submitter clinical testing The S1378G variant hasn't been published as a mutation, or reported as a benign polymorphism to our knowledge. The S1378G is a conservative amino acid substitution, which is not likely to impact secondary protein structure as the involved residues share similar properties. The S1378G substitution occurs at a highly conserved position in the LRPPRC protein. In silico analysis is inconsistent in its predictions as to whether or not the S1378G is damaging to the protein structure/function. Based on the currently available information, it is unclear whether the S1378G variant is a pathogenic mutation or a rare benign variant.
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000198536 SCV000258238 uncertain significance not specified 2015-04-17 criteria provided, single submitter clinical testing
Invitae RCV000767148 SCV001083548 likely benign not provided 2020-12-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001140441 SCV001300698 uncertain significance Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.

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.