Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000179082 | SCV000231275 | uncertain significance | not provided | 2015-04-06 | criteria provided, single submitter | clinical testing | |
Center for Human Genetics, |
RCV000680512 | SCV000807897 | uncertain significance | Connective tissue disorder | 2018-06-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002228793 | SCV001566379 | likely benign | Ehlers-Danlos syndrome, classic type, 1 | 2023-11-13 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV002227085 | SCV002506184 | uncertain significance | Ehlers-Danlos syndrome, classic type, 2 | 2022-01-12 | criteria provided, single submitter | clinical testing | The COL5A2 c.3836T>C; p.Ile1279Thr variant (rs752658223), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 197920). This variant is only observed on one allele in the Genome Aggregation Database, indicating it is not a common polymorphism. The isoleucine at codon 1279 is moderately conserved, and computational analyses predict that this variant is deleterious (REVEL: 0.749). However, given the lack of clinical and functional data, the significance of the p.Ile1279Thr variant is uncertain at this time. |