ClinVar Miner

Submissions for variant NM_006009.4(TUBA1A):c.652G>A (p.Asp218Asn) (rs1057517858)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000414596 SCV000490901 likely pathogenic not provided 2016-01-04 criteria provided, single submitter clinical testing The D218N variant in the TUBA1A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The D218N 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. The D218N variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Missense variants in the same and nearby residues (D218Y, R214H) have been reported in the Human Gene Mutation Database in association with TUBA1A-related disorder (Stenson et al., 2014), supporting the functional importance of this region of the protein. The D218N variant is a strong candidate for a pathogenic variant
Ambry Genetics RCV000623405 SCV000742902 likely pathogenic Inborn genetic diseases 2016-12-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: LIKELY POSITIVE: Relevant Alteration(s) Detected
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000767505 SCV000898120 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.652G>A, p.(Asp218Asn) variant has been reported as a variant of germline/unknown origin.
Dobyns Lab,Seattle Children's Research Institute RCV000779653 SCV000916332 pathogenic Lissencephaly 3; Corpus callosum agenesis; Genetic syndrome with a Dandy-Walker malformation as major feature 2019-02-18 no assertion criteria provided research

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