ClinVar Miner

Submissions for variant NM_000127.3(EXT1):c.124G>A (p.Gly42Ser)

gnomAD frequency: 0.00012  dbSNP: rs368382074
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002104598 SCV002437832 likely benign Multiple congenital exostosis 2024-03-18 criteria provided, single submitter clinical testing
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV003154238 SCV003843074 uncertain significance Exostoses, multiple, type 1 2022-10-11 criteria provided, single submitter clinical testing The EXT1 c.124G>A (p.Gly42Ser) missense change has a maximum subpopulation frequency of 0.052% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org). The in silico tool REVEL is inconclusive about a pathogenic or benign effect of this variant on protein function, and to our knowledge functional studies have not been performed. To our knowledge, this variant has not been reported in individuals with hereditary multiple exostoses. In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance.
Fulgent Genetics, Fulgent Genetics RCV005032173 SCV005669657 uncertain significance Chondrosarcoma; Exostoses, multiple, type 1 2024-02-08 criteria provided, single submitter clinical testing

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