NM_006009.4(TUBA1A):c.1084G>C (p.Val362Leu) AND Lissencephaly due to TUBA1A mutation

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Aug 14, 2020
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001257558.2

Allele description [Variation Report for NM_006009.4(TUBA1A):c.1084G>C (p.Val362Leu)]

NM_006009.4(TUBA1A):c.1084G>C (p.Val362Leu)

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.1084G>C (p.Val362Leu)

HGVS:

NC_000012.12:g.49185282C>G
NG_008966.1:g.8797G>C
NM_001270399.2:c.1084G>C
NM_001270400.2:c.979G>C
NM_006009.4:c.1084G>CMANE SELECT
NP_001257328.1:p.Val362Leu
NP_001257329.1:p.Val327Leu
NP_006000.2:p.Val362Leu
NC_000012.11:g.49579065C>G
NM_006009.3:c.1084G>C

Protein change:

V327L

Links:

dbSNP: rs1942166073

NCBI 1000 Genomes Browser:

rs1942166073

Molecular consequence:

NM_001270399.2:c.1084G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001270400.2:c.979G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_006009.4:c.1084G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Lissencephaly due to TUBA1A mutation (LIS3)
Synonyms:: Lissencephaly 3
Identifiers:: MONDO: MONDO:0012703; MedGen: C4305153; Orphanet: 171680; OMIM: 611603

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001430891	Institute of Human Genetics, University of Goettingen	no assertion criteria provided	Likely pathogenic (Aug 14, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001430891

Institute of Human Genetics, University of Goettingen

no assertion criteria provided

Likely pathogenic
(Aug 14, 2020)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Institute of Human Genetics, University of Goettingen, SCV001430891.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		1	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Dec 2, 2023

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