Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV000415170 | SCV000492762 | pathogenic | Distal arthrogryposis | 2014-05-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000487334 | SCV000567782 | pathogenic | not provided | 2022-10-28 | criteria provided, single submitter | clinical testing | In-frame deletion of 1 amino acid in a non-repeat region; Published functional studies demonstrate a damaging effect on ion channel inactivation, as human cells with the E2727del variant had slower inactivation and faster recovery in response to a mechanical stimulus, suggesting a gain-of-function effect (Coste et al., 2013); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 26259784, 24532247, 23487782, 31965297, 30131872, 31230720, 28974772, 30169785, 27743844, 30988732, 28636944, 35906671, 35698866, 34203046, 11146470, 17345626, Ma2022[Preprint], 27535533, 24726473) |
Ce |
RCV000487334 | SCV001248303 | pathogenic | not provided | 2016-12-01 | criteria provided, single submitter | clinical testing | |
Neuberg Centre For Genomic Medicine, |
RCV000224433 | SCV004047494 | pathogenic | Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome | criteria provided, single submitter | clinical testing | The inframe deletion variant c.8520_8522del (p.Glu2840del) in PIEZO2 gene has been reported previously as a de novo variant in multiple individuals with distal arthrogryposis type 5 (Coste et al., 2013; McMillin et al, 2014). Functional studies demonstrate that the c.8181_8183delAGA variant is associated with increased channel activity in response to repetitive mechanical signals (Coste et al., 2013).This variant has been reported to the ClinVar database as Pathogenic. The p.Glu2840del variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This p.Glu2840del causes deletion of amino acid Glutamic Acid at position 2840. This variant is predicted to cause loss of normal protein function. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Pathogenic. | |
OMIM | RCV000224433 | SCV000114918 | pathogenic | Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome | 2014-05-01 | no assertion criteria provided | literature only | |
University of Washington Center for Mendelian Genomics, |
RCV000224433 | SCV000281713 | pathogenic | Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome | 2014-06-04 | no assertion criteria provided | research | |
Lupski Lab, |
RCV001007806 | SCV001167496 | pathogenic | Gordon syndrome | no assertion criteria provided | research |