ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser) (rs61735045)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 13
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000174444 SCV000167854 benign not specified 2012-10-31 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000174444 SCV000225750 benign not specified 2014-12-01 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000174444 SCV000302147 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000349789 SCV000478533 likely benign Ehlers-Danlos syndrome, type 7A 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000174444 SCV000538719 benign not specified 2016-04-25 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Invitae RCV000032106 SCV000559993 benign Ehlers-Danlos syndrome, classic type 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000032106 SCV000603155 benign Ehlers-Danlos syndrome, classic type 2018-07-03 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587214 SCV000695386 benign not provided 2017-03-10 criteria provided, single submitter clinical testing Variant summary: The COL5A1 c.1588G>A (p.Gly530Ser) variant involves the alteration of a conserved nucleotide. 2/3 in silico tools predict a damaging outcome for this variant (SNPs&GO not captured due to low reliability index). However, these predictions have yet to be confirmed by functional studies. This variant was found in 4263/119292 control chromosomes (103 homozygotes) at a frequency of 0.0357358, which is approximately 28589 times the estimated maximal expected allele frequency of a pathogenic COL5A1 variant (0.0000013), suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign In the past, this variant was considered disease-modifying in heterozygotes and disease-causing in homozygotes, but new data from ExAC is supporting the fact that it is a benign variant. Taken together, this variant is classified as benign.
Ambry Genetics RCV000619145 SCV000738335 benign Cardiovascular phenotype 2015-05-21 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000659443 SCV000781258 likely benign Connective tissue disease 2016-11-01 criteria provided, single submitter clinical testing
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital RCV000174444 SCV000864290 benign not specified 2017-09-07 criteria provided, single submitter clinical testing BS1, BS2, BP6; This alteration has an allele frequency that is greater than expected for the associated disease, was seen in a healthy adult where full penetrance of the disorder is expected at an early age, and was reported as a benign/likely benign alteration by a reputable source (ClinVar or other correspondence from a clinical testing laboratory).
Mendelics RCV000032106 SCV001137949 benign Ehlers-Danlos syndrome, classic type 2019-05-28 criteria provided, single submitter clinical testing
GeneReviews RCV000032106 SCV000055646 pathologic Ehlers-Danlos syndrome, classic type 2011-08-18 no assertion criteria provided curation Converted during submission to Pathogenic.

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.