ClinVar Miner

Submissions for variant NM_006009.4(TUBA1A):c.362G>A (p.Arg121Gln)

dbSNP: rs2121246284
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001873728 SCV002205219 uncertain significance not provided 2022-02-02 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C35"). ClinVar contains an entry for this variant (Variation ID: 1174504). This variant has not been reported in the literature in individuals affected with TUBA1A-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 121 of the TUBA1A protein (p.Arg121Gln). 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.
MGZ Medical Genetics Center RCV002290716 SCV002578952 uncertain significance Lissencephaly due to LIS1 mutation 2022-08-30 criteria provided, single submitter clinical testing
GeneDx RCV001873728 SCV003930482 pathogenic not provided 2023-06-09 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Missense variants in this gene are often considered pathogenic (HGMD); 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: 24860126)
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001528134 SCV004013309 likely pathogenic Lissencephaly due to TUBA1A mutation 2023-06-19 criteria provided, single submitter clinical testing PS2, PM1, PM2, PP2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein RCV001528134 SCV001739342 uncertain significance Lissencephaly due to TUBA1A mutation 2021-05-05 no assertion criteria provided clinical testing

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