ClinVar Miner

Submissions for variant NM_006009.4(TUBA1A):c.379G>A (p.Asp127Asn) (rs1085308005)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622288 SCV000742339 uncertain significance Inborn genetic diseases 2017-04-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: UNCERTAIN: Alteration(s) of Uncertain Clinical Significance Detected
GeneDx RCV000489384 SCV000577820 pathogenic not provided 2018-04-16 criteria provided, single submitter clinical testing The D127N pathogenic variant in the TUBA1A gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant has been identified as a de novo variant with confirmed parentage in a patient with features suggestive of TUBA1A-related disorder previously tested at GeneDx. The D127N variant is not observed in large population cohorts (Lek et al., 2016). The D127N variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. We interpret D127N as a pathogenic variant.
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000767512 SCV000898127 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.379G>A, p.(Asp127Asn) variant has been reported as a variant of germline/unknown origin.

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