Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Eurofins Ntd Llc |
RCV000178591 | SCV000230704 | uncertain significance | not provided | 2014-12-12 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV002228789 | SCV000547892 | likely benign | Ehlers-Danlos syndrome, classic type, 1 | 2024-11-11 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV000178591 | SCV001788028 | uncertain significance | not provided | 2023-03-15 | criteria provided, single submitter | clinical testing | Identified by exome sequencing in one individual with a conotruncal heart defect who was compound heterozygous for another variant in the COL5A2 gene (Jin et al., 2017); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 28991257) |
| Ambry Genetics | RCV002321707 | SCV002609360 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2019-12-27 | 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. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV004800318 | SCV005422636 | likely benign | not specified | 2024-10-21 | criteria provided, single submitter | clinical testing | Variant summary: COL5A2 c.3209G>A (p.Arg1070His) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 6.8e-05 in 251294 control chromosomes. The observed variant frequency is approximately 11 fold of the estimated maximal expected allele frequency for a pathogenic variant in COL5A2 causing Ehlers-Danlos Syndrome phenotype (6.3e-06). c.3209G>A has been reported in the literature (example: Jin_2017). This report does not provide unequivocal conclusions about association of the variant with Ehlers-Danlos Syndrome. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 28991257). ClinVar contains an entry for this variant (Variation ID: 197537). Based on the evidence outlined above, the variant was classified as likely benign. |