Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000666155 | SCV000790400 | likely pathogenic | Metaphyseal chondrodysplasia, McKusick type | 2017-03-17 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV001245649 | SCV001418950 | pathogenic | Anauxetic dysplasia | 2023-07-19 | criteria provided, single submitter | clinical testing | This variant has been observed in individuals with cartilage-hair hypoplasia (PMID: 11940090). Other insertions and duplications immediately upstream of the coding sequence have been reported in individuals affected with cartilage-hair hypoplasia-anauxetic dysplasia (CHH-AD) spectrum disorders (PMID: 16244706, 11207361, 12107819). For these reasons, this variant has been classified as Pathogenic. While functional studies for this variant have not been reported, experimental analyses using patient derived cells, as well as in vitro transfection studies, have shown that promoter insertions result in silencing of RMRP transcription and reduced expression of the gene product (PMID: 11207361, 16254002). ClinVar contains an entry for this variant (Variation ID: 551168). This variant is also known as dupAAGCTGAGGACG at -2. This variant is not present in population databases (gnomAD no frequency). This variant occurs in the RMRP gene, which encodes an RNA molecule that does not result in a protein product. |
| Fulgent Genetics, |
RCV002485528 | SCV002800822 | likely pathogenic | Anauxetic dysplasia 1; Metaphyseal chondrodysplasia, McKusick type; Metaphyseal dysplasia without hypotrichosis | 2022-04-12 | criteria provided, single submitter | clinical testing |