ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.698A>G (p.Tyr233Cys)

gnomAD frequency: 0.00005  dbSNP: rs146316660
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000378883 SCV000342193 uncertain significance not provided 2016-07-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001859674 SCV002266762 uncertain significance Exostoses, multiple, type 2 2024-07-23 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 233 of the EXT2 protein (p.Tyr233Cys). This variant is present in population databases (rs146316660, gnomAD 0.01%). 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: 288165). 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 with a positive predictive value of 80%. 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.
Fulgent Genetics, Fulgent Genetics RCV002487253 SCV002791607 uncertain significance Exostoses, multiple, type 2; Seizures-scoliosis-macrocephaly syndrome 2021-12-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV004975399 SCV005584590 uncertain significance Inborn genetic diseases 2024-11-09 criteria provided, single submitter clinical testing The c.698A>G (p.Y233C) alteration is located in exon 4 (coding exon 3) of the EXT2 gene. This alteration results from a A to G substitution at nucleotide position 698, causing the tyrosine (Y) at amino acid position 233 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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