ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.626+3A>C

gnomAD frequency: 0.00003  dbSNP: rs200934340
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV001543120 SCV001761637 uncertain significance Multiple congenital exostosis 2021-06-24 criteria provided, single submitter clinical testing The EXT2 c.725+3A>C intronic change results from a A to C substitution at the +3 position of intron 4 of the EXT2 gene. Splice predictors are not conclusive as to whether or not this variant affects splicing and loss of function of the resulting protein product. RNA data demonstrates aberrant splicing in ~6-7% of mutant reads (internal data). This variant has a maximum subpopulation frequency of 0.0023% in gnomAD v2.1.1 (PM2_Supporting; https://gnomad.broadinstitute.org/variant/11-44130836-A-C?dataset=gnomad_r2_1). In summary, this variant meets criteria to be classified as of uncertain significance based on the ACMG/AMP criteria: PM2_Supporting.
GeneDx RCV001564582 SCV001787767 uncertain significance not provided 2021-04-14 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge
Mayo Clinic Laboratories, Mayo Clinic RCV001564582 SCV005412312 uncertain significance not provided 2024-08-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005040311 SCV005683541 uncertain significance Exostoses, multiple, type 2; Seizures-scoliosis-macrocephaly syndrome 2024-02-02 criteria provided, single submitter clinical testing

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