ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.3576C>T (p.Ala1192=)

gnomAD frequency: 0.00003  dbSNP: rs574331101
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000259314 SCV000425539 uncertain significance Ehlers-Danlos syndrome, type 4 2018-01-13 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.
CeGaT Center for Human Genetics Tuebingen RCV000997619 SCV001153232 likely benign not provided 2019-03-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000259314 SCV001686625 likely benign Ehlers-Danlos syndrome, type 4 2023-10-28 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003528167 SCV004363038 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-10-18 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000259314 SCV004815807 likely benign Ehlers-Danlos syndrome, type 4 2023-12-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV003528167 SCV005032222 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-10-08 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000997619 SCV001808028 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000997619 SCV001930413 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000997619 SCV001957414 likely benign not provided 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.