ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.857G>A (p.Cys286Tyr)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002993785 SCV003291842 uncertain significance Exostoses, multiple, type 2 2023-01-03 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. 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. This variant has not been reported in the literature in individuals affected with EXT2-related conditions. This variant is present in population databases (rs778720458, gnomAD 0.03%). This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 286 of the EXT2 protein (p.Cys286Tyr).
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University RCV003154267 SCV003843683 likely pathogenic Ovarian cancer 2022-01-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV003250683 SCV003964271 uncertain significance Inborn genetic diseases 2023-03-17 criteria provided, single submitter clinical testing The c.857G>A (p.C286Y) alteration is located in exon 5 (coding exon 4) of the EXT2 gene. This alteration results from a G to A substitution at nucleotide position 857, causing the cysteine (C) at amino acid position 286 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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