ClinVar Miner

Submissions for variant NM_006009.4(TUBA1A):c.791G>A (p.Arg264His) (rs886043627)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000381002 SCV000807275 uncertain significance Lissencephaly 3 2017-09-01 criteria provided, single submitter clinical testing This variant was found once in our laboratory de novo in a newborn female with IUGR, hypotonia, seizures, microcephaly, lissencephaly, cerebellar hypoplasia, tachycardia, hypoplastic optic nerve.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726002 SCV000341151 likely pathogenic not provided 2016-04-05 criteria provided, single submitter clinical testing
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000767451 SCV000898066 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.791G>A, p.(Arg264His) variant has been reported as a variant of germline/unknown origin. This variant and associated phenotype was previously reported by Alby et al. Birth Defects Res A Clin Mol Teratol, 2016
Prenatal Medicine Munich,Prenatal Medicine Munich RCV000381002 SCV000680095 likely pathogenic Lissencephaly 3 2017-10-19 criteria provided, single submitter clinical testing

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