ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.812G>A (p.Arg271Gln) (rs112185887)

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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000514955 SCV000603146 benign not provided 2018-02-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000253152 SCV000317901 likely benign Cardiovascular phenotype 2018-01-16 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,In silico models in agreement (benign)
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769564 SCV000900961 likely benign Thoracic aortic aneurysm and aortic dissection 2016-06-23 criteria provided, single submitter clinical testing
CSER_CC_NCGL; University of Washington Medical Center RCV000148458 SCV000190157 likely benign Ehlers-Danlos syndrome, type 4 2014-06-01 no assertion criteria provided research
Center for Human Genetics, Inc RCV000680499 SCV000807882 likely benign Connective tissue disorder 2018-06-01 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514955 SCV000610622 likely benign not provided 2017-03-10 criteria provided, single submitter clinical testing
Color RCV000769564 SCV000910959 likely benign Thoracic aortic aneurysm and aortic dissection 2018-03-14 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000148458 SCV000296869 benign Ehlers-Danlos syndrome, type 4 2015-11-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000181073 SCV000854894 likely benign not specified 2017-08-02 criteria provided, single submitter clinical testing
GeneDx RCV000181073 SCV000233349 likely benign not specified 2018-01-31 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.
GenomeConnect, ClinGen RCV000148458 SCV000606896 not provided Ehlers-Danlos syndrome, type 4 no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Illumina Clinical Services Laboratory,Illumina RCV000148458 SCV000425505 likely benign Ehlers-Danlos syndrome, type 4 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000514955 SCV000695380 likely benign not provided 2016-02-09 criteria provided, single submitter clinical testing Variant summary: This c.812G>A variant affects a conserved nucleotide, resulting in amino acid change from Arg to Gln. 3/4 in-silico tools predict this variant to be benign. This variant was found in 174/122684 control chromosomes from ExAC at a frequency of 0.0014183, which is more than 1134 times greater than the maximal expected frequency of a pathogenic allele (0.0000013) in this gene, suggesting this variant is benign. In addition, one homozygous occurrence was also recorded by the ExAC project supporting a benign nature for the variant. The variant has been reported in a patient with traumatic subarachnoid hemorrhage who also had other possible underlying causes and authors consider this gene as having a potential causal link (Pickup _2011). The variant was also found in a patient with familial abdominal aortic aneurysm (van de Luijtgaarden_2015) and in two patients with clinical features of EhlersDanlos syndrome (Frank_2015). With lack of cosegregation information, these clinical reports do not strongly suggest for a pathogenic outcome. The variant was also found as a somatic occurrence in a cutaneous squamous cell carcinoma that also carried other potentially pathogenic somatic variants in other genes (Durinck_2011). In addition, the variant was found not to be a risk variant for age-related macular degeneration (Seddon_2013). While one lab classifies this variant as uncertain significance, another classifies it as likely benign. In addition, this variant has also been published as likely benign variant in multiple publications (Amendola_GR_2015, Dorschner_AJHG_2013, etc). Based on the available information, this variant has been currently classified as likely benign.
Invitae RCV000148458 SCV000283468 likely benign Ehlers-Danlos syndrome, type 4 2018-01-09 criteria provided, single submitter clinical testing

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