ClinVar Miner

Submissions for variant NM_006086.4(TUBB3):c.805G>A (p.Gly269Ser)

dbSNP: rs2151092918
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001563193 SCV001786092 uncertain significance not provided 2025-02-28 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Missense variants in this gene are a common cause of disease and they are underrepresented in the general population; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 20829227)
Labcorp Genetics (formerly Invitae), Labcorp RCV001563193 SCV004643950 benign not provided 2023-12-07 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV004762161 SCV005368311 likely pathogenic Complex cortical dysplasia with other brain malformations 1 2022-10-18 criteria provided, single submitter clinical testing Criteria applied: PS2_MOD,PM1,PM2_SUP,PP3

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