ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.382C>T (p.Arg128Trp)

gnomAD frequency: 0.00004  dbSNP: rs200613371
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Total submissions: 4
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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. Jude Molecular Pathology, St. Jude Children's Research Hospital 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.
PreventionGenetics, part of Exact Sciences 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).

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