ClinVar Miner

Submissions for variant NM_020451.3(SELENON):c.415G>A (p.Ala139Thr)

gnomAD frequency: 0.00054  dbSNP: rs201692549
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193575 SCV000248843 uncertain significance not specified 2014-05-14 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000725931 SCV000340607 uncertain significance not provided 2016-04-06 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000725931 SCV000615146 uncertain significance not provided 2022-08-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000543024 SCV000634413 likely benign Eichsfeld type congenital muscular dystrophy 2024-01-25 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001097302 SCV001253566 uncertain significance SEPN1-related disorder 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.
Knight Diagnostic Laboratories, Oregon Health and Sciences University RCV000543024 SCV001448823 uncertain significance Eichsfeld type congenital muscular dystrophy 2019-11-15 criteria provided, single submitter clinical testing
GeneDx RCV000725931 SCV001782160 uncertain significance not provided 2022-09-26 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002492881 SCV002784765 uncertain significance Eichsfeld type congenital muscular dystrophy; Congenital myopathy with fiber type disproportion 2021-10-14 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.