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NM_006009.4(TUBA1A):c.641G>T (p.Arg214Leu) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 20, 2018
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000497556.2

Allele description [Variation Report for NM_006009.4(TUBA1A):c.641G>T (p.Arg214Leu)]

NM_006009.4(TUBA1A):c.641G>T (p.Arg214Leu)

Gene:
TUBA1A:tubulin alpha 1a [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q13.12
Genomic location:
Preferred name:
NM_006009.4(TUBA1A):c.641G>T (p.Arg214Leu)
HGVS:
  • NC_000012.12:g.49185725C>A
  • NG_008966.1:g.8354G>T
  • NM_001270399.2:c.641G>T
  • NM_001270400.2:c.536G>T
  • NM_006009.4:c.641G>TMANE SELECT
  • NP_001257328.1:p.Arg214Leu
  • NP_001257329.1:p.Arg179Leu
  • NP_006000.2:p.Arg214Leu
  • NC_000012.11:g.49579508C>A
  • NM_006009.2:c.641G>T
  • NM_006009.3:c.641G>T
Protein change:
R179L
Links:
dbSNP: rs1057517843
NCBI 1000 Genomes Browser:
rs1057517843
Molecular consequence:
  • NM_001270399.2:c.641G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001270400.2:c.536G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006009.4:c.641G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000590462GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Nov 20, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000590462.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The R214L variant in the TUBA1A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. However, a missense variant at the same codon, R214H, has been reported as a de novo variant in an individual with central polymicrogyria-like cortical dysplasia and complete agenesis of the corpus callosum (Bahi-Buisson et al., 2014). The R214L variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R214L variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret R214L as a pathogenic variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 23, 2024