Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Fulgent Genetics, |
RCV002496405 | SCV002811490 | pathogenic | Autosomal recessive nonsyndromic hearing loss 53; Autosomal dominant nonsyndromic hearing loss 13; Otospondylomegaepiphyseal dysplasia, autosomal recessive; Otospondylomegaepiphyseal dysplasia, autosomal dominant; Fibrochondrogenesis 2 | 2022-05-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002513107 | SCV003513812 | pathogenic | not provided | 2023-12-28 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg1331*) in the COL11A2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL11A2 are known to be pathogenic (PMID: 10677296, 21204229). This variant is present in population databases (rs121912951, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with otospondylomegaepiphyseal dysplasia (PMID: 10677296). ClinVar contains an entry for this variant (Variation ID: 17128). For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000018666 | SCV000038949 | pathogenic | Otospondylomegaepiphyseal dysplasia, autosomal recessive | 2005-01-01 | no assertion criteria provided | literature only |