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:
current
Accession:
RCV000255074.1

Allele description

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

Gene:
TUBA1A:tubulin alpha 1a [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q13.12
Genomic location:
Preferred name:
NM_006009.3(TUBA1A):c.1265G>A (p.Arg422His)
HGVS:
  • 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
Links:
OMIM: 602529.0008; dbSNP: rs137853050
NCBI 1000 Genomes Browser:
rs137853050
Molecular consequence:
  • NM_006009.3:c.1265G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000321986GeneDxcriteria provided, single submitter
Pathogenic
(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

Description

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.

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

Last Updated: Aug 30, 2018