Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Eurofins Ntd Llc |
RCV000255165 | SCV000227235 | pathogenic | not provided | 2017-11-13 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV000255165 | SCV000322315 | pathogenic | not provided | 2021-12-02 | criteria provided, single submitter | clinical testing | Reported in patients with Stickler syndrome and described as being associated with a high incidence of ocular involvement and a lower incidence of the systemic features associated with Stickler syndrome (Donoso et al., 2002; Parma et al., 2002; Stone et al., 2017); Not observed in large population cohorts (Lek et al., 2016); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Located in exon 2, which is an alternatively spliced exon; a genotype-phenotype correlation of variants in exon 2 with a predominantly ocular phenotype has been proposed due to differential tissue expression of alternative isoforms (Donoso et al., 2003; McAlinden et al., 2008); Reported in ClinVar as pathogenic (ClinVar Variant ID# 195148; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 12429249, 12429250, 27234559, 28559085, 32039712, 23592912, 17721977) |
| Fulgent Genetics, |
RCV000762897 | SCV000893297 | pathogenic | Achondrogenesis type II; Avascular necrosis of femoral head, primary, 1; Multiple epiphyseal dysplasia, Beighton type; Legg-Calve-Perthes disease; Kniest dysplasia; Namaqualand hip dysplasia; Spondyloperipheral dysplasia; Stickler syndrome type 1; Platyspondylic dysplasia, Torrance type; Spondylometaphyseal dysplasia; Spondyloepiphyseal dysplasia congenita; Spondyloepiphyseal dysplasia with metatarsal shortening; Stickler syndrome, type I, nonsyndromic ocular; Spondyloepiphyseal dysplasia, Stanescu type | 2018-10-31 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV000255165 | SCV001202292 | pathogenic | not provided | 2025-01-30 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Cys86*) in the COL2A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL2A1 are known to be pathogenic (PMID: 20179744). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Stickler syndrome (PMID: 12429249, 23592912, 28559085). ClinVar contains an entry for this variant (Variation ID: 195148). For these reasons, this variant has been classified as Pathogenic. |
| Fulgent Genetics, |
RCV005008098 | SCV005634618 | pathogenic | Achondrogenesis type II; Avascular necrosis of femoral head, primary, 1; Multiple epiphyseal dysplasia, Beighton type; Legg-Calve-Perthes disease; Kniest dysplasia; Namaqualand hip dysplasia; Spondyloperipheral dysplasia; Stickler syndrome type 1; Platyspondylic dysplasia, Torrance type; Spondyloepiphyseal dysplasia congenita; Spondyloepiphyseal dysplasia with metatarsal shortening; Stickler syndrome, type I, nonsyndromic ocular; Vitreoretinopathy with phalangeal epiphyseal dysplasia; Spondyloepiphyseal dysplasia, Stanescu type; Spondyloepimetaphyseal dysplasia, Strudwick type | 2024-04-09 | criteria provided, single submitter | clinical testing |