Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000970411 | SCV001117988 | likely benign | Exostoses, multiple, type 2 | 2023-11-06 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001335666 | SCV001528870 | uncertain significance | Seizures-scoliosis-macrocephaly syndrome | 2018-01-13 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
St. |
RCV001789785 | SCV002032296 | uncertain significance | Multiple congenital exostosis | 2021-11-17 | criteria provided, single submitter | clinical testing | The EXT2 c.481C>T (p.Arg161Trp) missense change has a maximum subpopulation frequency of 0.23% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/variant/11-44129644-C-T?dataset=gnomad_r2_1). Seven of seven in silico tools predict a deleterious effect of this variant on protein function (PP3), but to our knowledge these predictions have not been confirmed by functional studies. This variant has been reported in an individual with multiple osteochondromas who also harbored a R341S missense variant in EXT1 (BP5; PMID: 26961984). It has also been reported in an individual with hereditary multiple exostoses (PMID: 29126381). In summary, this variant meets criteria to be classified as of uncertain significance based on the ACMG/AMP criteria: PP3, BP5. |
Prevention |
RCV003905992 | SCV004721673 | likely benign | EXT2-related disorder | 2020-01-03 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |