Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002233879 | SCV000936136 | likely benign | Ehlers-Danlos syndrome, classic type, 1 | 2023-10-13 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001000700 | SCV001157739 | uncertain significance | Ehlers-Danlos syndrome, classic type, 2 | 2018-07-25 | criteria provided, single submitter | clinical testing | The COL5A2 c.3638C>T; p.Pro1213Leu variant (rs1056466895), to our knowledge, has not been described in the medical literature or in gene-specific databases, and is only observed on 2 alleles in the Genome Aggregation Database. The proline at codon 1213 is highly conserved, but computational algorithms (PolyPhen-2: probably damaging, SIFT: tolerated) predict conflicting effects of this variant on protein structure/function. Due to lack of clinical and functional information regarding this variant, its clinical significance cannot be determined with certainty. |
Gene |
RCV003332251 | SCV004040226 | uncertain significance | not provided | 2023-03-27 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |