ClinVar Miner

Submissions for variant NM_006009.4(TUBA1A):c.790C>G (p.Arg264Gly) (rs137853043)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000256084 SCV000321985 pathogenic not provided 2015-03-31 criteria provided, single submitter clinical testing The R264G missense variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts R264G is probably damaging to the protein structure/function. A different amino acid substitution at this position (R264C) has been reported previously as a de novo mutation in an individual with lissencephaly, pachygyria, agenesis of the corpus callosum, abnormalities of the inferior vermis, and hypoplasia of the brain stem (Keays et al., 2007). Additionally, missense variant in nearby residues (P263T and A270T) have been reported in the Human Gene Mutation Database in association with TUBA1A-related disorders (Stenson et al., 2014), supporting the functional importance of this region of the protein.
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000767502 SCV000898117 likely pathogenic Tubulinopathies 2018-07-01 criteria provided, single submitter literature only A variant that is classified as likely pathogenic has been identified in the TUBA1A gene in a born individual of unknown sex. The c.790C>G, p.(Arg264Gly) variant has been reported as a variant of germline/unknown origin.

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