ClinVar Miner

Submissions for variant NM_006009.4(TUBA1A):c.1341del (p.Gly448fs)

dbSNP: rs1565626826
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000767412 SCV000898027 likely pathogenic Tubulinopathy 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 54 months old born individual of female sex. The c.1341del, p.(Gly448Glufs*36) variant has been reported as a variant of de novo origin. This variant and associated phenotype was previously reported by de Ligt et al. N Engl J Med, 2012 HPO-standardized clinical features were: Hypoplasia of the pons (HP:0012110); Cerebellar hypoplasia (HP:0001321)

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