ClinVar Miner

Submissions for variant NM_006009.4(TUBA1A):c.175G>A (p.Gly59Ser)

dbSNP: rs1565627712
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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 RCV000767485 SCV000898100 pathogenic Tubulinopathy 2018-07-01 criteria provided, single submitter literature only A variant that is classified as pathogenic has been identified in the TUBA1A gene in a 51 months old born individual of male sex. The c.175G>A, p.(Gly59Ser) variant has been reported as a variant of de novo origin. This variant and associated phenotype was previously reported by Romaniello et al. Eur Radiol, 2017 PMID: 28677066. HPO-standardized clinical features were: Hypoplasia of the corpus callosum (HP:0002079); no Abnormality of brainstem morphology (-HP:0002363); Dilated fourth ventricle (HP:0002198); no Congenital microcephaly (-HP:0011451); Other neurological symptoms (NA)

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