ClinVar Miner

Submissions for variant NM_000093.4(COL5A1):c.574G>A (p.Asp192Asn) (rs138579182)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000588510 SCV000603172 benign not provided 2017-05-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620377 SCV000738316 benign Cardiovascular phenotype 2015-02-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: 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 RCV000226247 SCV000781254 likely benign Ehlers-Danlos syndrome, classic type 2016-11-01 criteria provided, single submitter clinical testing
GeneDx RCV000124479 SCV000167912 benign not specified 2013-01-09 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.
Illumina Clinical Services Laboratory,Illumina RCV000319752 SCV000478507 likely benign Ehlers-Danlos syndrome, type 7A 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588510 SCV000695401 benign not provided 2017-03-10 criteria provided, single submitter clinical testing Variant summary: The COL5A1 c.574G>A (p.Asp192Asn) variant involves the alteration of a conserved nucleotide, resulting in a missense substitution. 4/4 in silico tools predict a benign outcome for this variant (SNPs&GO not captured due to low reliability index). This variant was found in 2009/119100 control chromosomes (28 homozygotes) at a frequency of 0.0168682, which is approximately 13495 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. To our knowledge, the variant of interest has it been evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign.
Invitae RCV000226247 SCV000283504 benign Ehlers-Danlos syndrome, classic type 2017-08-07 criteria provided, single submitter clinical testing
PreventionGenetics RCV000124479 SCV000302245 benign not specified criteria provided, single submitter clinical testing
SIB Swiss Institute of Bioinformatics RCV000226247 SCV000803510 benign Ehlers-Danlos syndrome, classic type 2018-05-31 criteria provided, single submitter curation This variant is interpreted as a Benign - Stand Alone, for Ehlers-Danlos syndrome, classic type, 1, in Autosomal Dominant manner. The following ACMG Tag(s) were applied: BP4 => Multiple lines of computational evidence suggest no impact on gene or gene product (conservation, evolutionary, splicing impact, etc.). BP5 => Variant found in a case with an alternate molecular basis for disease. BA1 => Allele frequency is >1% in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. Allele frequency is >4% in European (Finnish).

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