ClinVar Miner

Submissions for variant NM_006009.4(TUBA1A):c.1246G>A (p.Gly416Ser)

dbSNP: rs1057521986
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000417564 SCV000525414 pathogenic not provided 2021-01-12 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); Missense variants in this gene are often considered pathogenic (Stenson et al., 2014); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 30744660, 29068161, 28250456)
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000767501 SCV000898116 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 born individual of unknown sex. The c.1246G>A, p.(Gly416Ser) variant has been reported as a variant of germline/unknown origin.
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV001265592 SCV001443757 likely pathogenic TUBA1A-associated tubulinopathy 2019-12-06 criteria provided, single submitter clinical testing The p.Gly416Ser variant has been reported in a large cohort study investigating the mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy (PMID: 30744660). Additionally, the ClinVar database contains an entry for this variant (Variation ID: 384538). It is absent from the ExAC and gnomAD population databases and thus is presumed to be rare. The c.1246G>A (p.Gly416Ser) variant affects a highly conserved amino acid and is predicted by multiple in silico tools to have a deleterious effect on protein function. Analysis of the parental samples was negative for the variant, indicating this variant likely occurred as a de novo event. Based on the available evidence, the c.1246G>A (p.Gly416Ser) variant is classified as Likely Pathogenic.

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