ClinVar Miner

Submissions for variant NM_000127.3(EXT1):c.1873A>G (p.Ile625Val)

gnomAD frequency: 0.00001  dbSNP: rs773393953
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001229892 SCV001402353 uncertain significance Multiple congenital exostosis 2021-12-18 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. 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 not expected to disrupt EXT1 protein function. ClinVar contains an entry for this variant (Variation ID: 956988). This variant has not been reported in the literature in individuals affected with EXT1-related conditions. This variant is present in population databases (rs773393953, gnomAD 0.003%). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 625 of the EXT1 protein (p.Ile625Val).
Fulgent Genetics, Fulgent Genetics RCV002484253 SCV002786583 uncertain significance Chondrosarcoma; Exostoses, multiple, type 1 2022-03-03 criteria provided, single submitter clinical testing

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