ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.973C>T (p.Arg325Trp)

gnomAD frequency: 0.00004  dbSNP: rs145611597
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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 RCV001294174 SCV001483003 uncertain significance Exostoses, multiple, type 2 2020-09-11 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001294174 SCV004559218 uncertain significance Exostoses, multiple, type 2 2023-07-18 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 325 of the EXT2 protein (p.Arg325Trp). This variant is present in population databases (rs145611597, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with EXT2-related conditions. ClinVar contains an entry for this variant (Variation ID: 998352). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt EXT2 protein function.
Fulgent Genetics, Fulgent Genetics RCV005040135 SCV005683550 uncertain significance Exostoses, multiple, type 2; Seizures-scoliosis-macrocephaly syndrome 2024-05-15 criteria provided, single submitter clinical testing

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