Submissions for variant NM_000393.5(COL5A2):c.4067A>G (p.Asp1356Gly)

gnomAD frequency: 0.00036  dbSNP: rs140952583

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000196787	SCV000249988	likely benign	not provided	2023-05-30	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
Illumina Laboratory Services, Illumina	RCV000299510	SCV000425614	likely benign	Ehlers-Danlos syndrome type 7A	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV002229096	SCV000547866	likely benign	Ehlers-Danlos syndrome, classic type, 1	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001139303	SCV001299435	likely benign	Ehlers-Danlos syndrome, classic type, 2	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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	RCV000196787	SCV002009208	uncertain significance	not provided	2021-11-03	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277500	SCV002565839	likely benign	Ehlers-Danlos syndrome	2022-07-17	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002321787	SCV002626426	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2020-02-27	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001139303	SCV004563106	likely benign	Ehlers-Danlos syndrome, classic type, 2	2023-03-23	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003907718	SCV004719027	likely benign	COL5A2-related condition	2023-04-13	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Birmingham Platelet Group; University of Birmingham	RCV001270524	SCV001450823	uncertain significance	Abnormal bleeding; Thrombocytopenia	2020-05-01	no assertion criteria provided	research
GenomeConnect - Invitae Patient Insights Network	RCV001139303	SCV004228959	not provided	Ehlers-Danlos syndrome, classic type, 2		no assertion provided	phenotyping only	Variant interpreted as Likely benign and reported on 05-03-2019 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.