Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000194003 | SCV000246901 | pathogenic | Joubert syndrome 9 | 2014-09-22 | criteria provided, single submitter | clinical testing | |
UW Hindbrain Malformation Research Program, |
RCV000194003 | SCV000256339 | pathogenic | Joubert syndrome 9 | 2015-02-23 | criteria provided, single submitter | research | |
Genetic Services Laboratory, |
RCV000049724 | SCV000593890 | pathogenic | Meckel syndrome type 6 | 2014-09-04 | criteria provided, single submitter | clinical testing | |
EGL Genetic Diagnostics, |
RCV000725911 | SCV000701189 | pathogenic | not provided | 2016-03-14 | criteria provided, single submitter | clinical testing | |
Centre for Mendelian Genomics, |
RCV000626744 | SCV000747447 | pathogenic | Talipes equinovarus; Encephalocele; Postaxial polydactyly type A1; Polycystic kidney dysplasia; Oligohydramnios; Microcephaly; Narrow chest | 2017-01-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000696362 | SCV000824920 | pathogenic | Joubert syndrome; Meckel-Gruber syndrome | 2018-06-01 | criteria provided, single submitter | clinical testing | This sequence change, c.4179+1delG, affects a donor splice site in intron 33 of the CC2D2A gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is present in population databases (rs386833761, ExAC 0.02%). This variant has been observed on the opposite chromosome (in trans) from other pathogenic variants in an individuals affected with Joubert syndrome (PMID: 26092869) and Meckel-Gruber syndrome (PMID: 19777577). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. ClinVar contains an entry for this variant (Variation ID: 56312). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in CC2D2A are known to be pathogenic (PMID: 19777577). For these reasons, this variant has been classified as Pathogenic. |
Juha Muilu Group; Institute for Molecular Medicine Finland |
RCV000049724 | SCV000082131 | probable-pathogenic | Meckel syndrome type 6 | no assertion criteria provided | not provided | Converted during submission to Likely pathogenic. | |
Juha Muilu Group; Institute for Molecular Medicine Finland |
RCV000049724 | SCV000082132 | probable-pathogenic | Meckel syndrome type 6 | no assertion criteria provided | not provided | Converted during submission to Likely pathogenic. |