Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Diagnostics Lab, |
RCV000005287 | SCV000590828 | pathogenic | Metatrophic dysplasia | 2016-06-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000624630 | SCV000742459 | pathogenic | Inborn genetic diseases | 2017-11-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000707315 | SCV000836406 | pathogenic | Charcot-Marie-Tooth disease axonal type 2C | 2019-10-15 | criteria provided, single submitter | clinical testing | This sequence change replaces proline with leucine at codon 799 of the TRPV4 protein (p.Pro799Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in many individuals affected with metatropic and spondylometaphyseal dysplasia (PMID: 20425821, 21658220, 20503319, 20577006). It has been found to be de novo in individuals affected with metatropic dysplasia (PMID: 19232556, 20577006). ClinVar contains an entry for this variant (Variation ID: 4998). Experimental studies have shown that this missense change results in constitutive activation of the TRPV4 protein channel (PMID: 26170305, 21573172, 20425821, 26249260). For these reasons, this variant has been classified as Pathogenic. |
Centre for Mendelian Genomics, |
RCV000707315 | SCV001369422 | pathogenic | Charcot-Marie-Tooth disease axonal type 2C | 2019-05-20 | criteria provided, single submitter | clinical testing | This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PS1,PS3,PM1,PM2,PM5,PP3. |
Institute of Human Genetics, |
RCV001253672 | SCV001429512 | pathogenic | Parastremmatic dwarfism | 2017-11-09 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000005287 | SCV000025465 | pathogenic | Metatrophic dysplasia | 2010-10-01 | no assertion criteria provided | literature only | |
OMIM | RCV000005288 | SCV000025466 | pathogenic | Spondyloepiphyseal dysplasia Maroteaux type | 2010-10-01 | no assertion criteria provided | literature only | |
Gene |
RCV000202554 | SCV000148045 | pathogenic | Skeletal dysplasia | 2014-04-02 | no assertion criteria provided | literature only |