Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000255822 | SCV000321618 | pathogenic | not provided | 2023-10-24 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 27616605, 30334991, 25525159, 23439489, 10713884, 26961984, 30105120, 23629877, 23262345, 33632255, 32293802, 33414810) |
Invitae | RCV000707279 | SCV000836369 | pathogenic | Exostoses, multiple, type 2 | 2022-07-22 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 265133). This premature translational stop signal has been observed in individual(s) with hereditary multiple osteochondromatosis (PMID: 10713884, 23262345, 23439489, 23629877, 26961984). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg182*) in the EXT2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EXT2 are known to be pathogenic (PMID: 10679937, 19810120). |
Ce |
RCV000255822 | SCV001248260 | pathogenic | not provided | 2019-03-01 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV000707279 | SCV003936059 | pathogenic | Exostoses, multiple, type 2 | 2023-06-19 | criteria provided, single submitter | clinical testing | |
Neuberg Centre For Genomic Medicine, |
RCV000707279 | SCV004047704 | pathogenic | Exostoses, multiple, type 2 | criteria provided, single submitter | clinical testing | The stop gained c.544C>T (p.Arg182Ter) variant has been observed in individuals and families affected with hereditary multiple osteochondromatosis (DobsonStone C et al). The p.Arg182Ter variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. This variant has been submitted to the ClinVar database as Pathogenic. The nucleotide change c.544C>T in EXT2 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Pathogenic. |