ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.923T>C (p.Leu308Pro) (rs78135392)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000262689 SCV000476585 uncertain significance Familial dysautonomia 2018-01-12 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000262689 SCV000604025 uncertain significance Familial dysautonomia 2020-05-07 criteria provided, single submitter clinical testing The ELP1 c.923T>C; p.Leu308Pro variant (rs78135392), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 364578). This variant is found in the African population with an allele frequency of 0.75% (186/24964 alleles, including a single homozygote) in the Genome Aggregation Database. The leucine at codon 308 is moderately conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Due to limited information, the clinical significance of the p.Leu308Pro variant is uncertain at this time.
GeneDx RCV000506849 SCV000715000 likely benign not specified 2017-10-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000755553 SCV000751667 likely benign not provided 2019-12-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV000262689 SCV001452216 benign Familial dysautonomia 2020-05-30 no assertion criteria provided 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.