NM_006009.3(TUBA1A):c.1265G>A (p.Arg422His) AND not provided

Clinical significance:Pathogenic (Last evaluated: Jun 9, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:

Allele description

NM_006009.3(TUBA1A):c.1265G>A (p.Arg422His)

TUBA1A:tubulin alpha 1a [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_006009.3(TUBA1A):c.1265G>A (p.Arg422His)
  • NC_000012.12:g.49185101C>T
  • NG_008966.1:g.8978G>A
  • NM_006009.3:c.1265G>A
  • NP_006000.2:p.Arg422His
  • NC_000012.11:g.49578884C>T
  • NM_006009.2:c.1265G>A
Protein change:
R422H; ARG422HIS
OMIM: 602529.0008; dbSNP: rs137853050
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_006009.3:c.1265G>A - missense variant - [Sequence Ontology: SO:0001583]


MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV000321986GeneDxcriteria provided, single submitter
(Jun 9, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000321986.5

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


The R422H pathogenic variant in the TUBA1A gene has been reported previously as a de novo variant in an multiple individuals with lissencephaly and associated brain abnormalities (Bahi-Buisson et al., 2008, Morris-Rosendahl et al., 2008). A different missense variant at the same residue (R422C) has also been reported in association with a TUBA1A-related disorder (Bahi-Buisson et al., 2008). The R422H substitution was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Therefore, we interpret R422H to be a pathogenic variant.

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

Last Updated: Aug 30, 2018