ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.1912G>A (p.Val638Ile)

gnomAD frequency: 0.00031  dbSNP: rs145024832
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002187821 SCV002354787 likely benign Exostoses, multiple, type 2 2023-12-01 criteria provided, single submitter clinical testing
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV002187821 SCV002584693 uncertain significance Exostoses, multiple, type 2 2023-09-08 criteria provided, single submitter clinical testing The EXT2 c.2011G>A (p.Val671Ile) missense change has a maximum subpopulation frequency of 0.080% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org). The in silico tool REVEL predicts a benign effect on protein function, but to our knowledge this prediction has not been confirmed by functional studies. To our knowledge, this variant has not been reported in individuals with hereditary multiple exostoses. In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance.

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