ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.1685G>A (p.Arg562Gln)

gnomAD frequency: 0.00008  dbSNP: rs140561784
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001292629 SCV001481221 uncertain significance Exostoses, multiple, type 2 2019-10-12 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV001292629 SCV001532572 likely benign Exostoses, multiple, type 2 2023-02-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003416156 SCV004115610 uncertain significance EXT2-related disorder 2022-08-29 criteria provided, single submitter clinical testing The EXT2 c.1685G>A variant is predicted to result in the amino acid substitution p.Arg562Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.080% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/11-44253925-G-A), which is likely too common for an undocumented disease-causing variant. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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