NM_001376.5(DYNC1H1):c.10030C>T (p.Arg3344Trp) AND Lissencephaly

Germline classification:: Likely pathogenic (1 submission)
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:: RCV001291069.1

Allele description [Variation Report for NM_001376.5(DYNC1H1):c.10030C>T (p.Arg3344Trp)]

NM_001376.5(DYNC1H1):c.10030C>T (p.Arg3344Trp)

Gene:

DYNC1H1:dynein cytoplasmic 1 heavy chain 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q32.31

Genomic location:

Preferred name:

NM_001376.5(DYNC1H1):c.10030C>T (p.Arg3344Trp)

HGVS:

NC_000014.9:g.102032418C>T
NG_008777.1:g.72891C>T
NM_001376.5:c.10030C>TMANE SELECT
NP_001367.2:p.Arg3344Trp
NC_000014.8:g.102498755C>T
NM_001376.4:c.10030C>T

Protein change:

R3344W

Links:

dbSNP: rs2048519381

NCBI 1000 Genomes Browser:

rs2048519381

Molecular consequence:

NM_001376.5:c.10030C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Lissencephaly
Synonyms:: Lissencephaly spectrum disorders
Identifiers:: MONDO: MONDO:0018838; MedGen: C0266463; OMIM: PS607432; Human Phenotype Ontology: HP:0001339

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001479432	University of Washington Center for Mendelian Genomics, University of Washington	no assertion criteria provided	Likely pathogenic	unknown	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001479432

University of Washington Center for Mendelian Genomics, University of Washington

no assertion criteria provided

Likely pathogenic

unknown

research

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.

Di Donato N, Timms AE, Aldinger KA, Mirzaa GM, Bennett JT, Collins S, Olds C, Mei D, Chiari S, Carvill G, Myers CT, Rivière JB, Zaki MS; University of Washington Center for Mendelian Genomics., Gleeson JG, Rump A, Conti V, Parrini E, Ross ME, Ledbetter DH, Guerrini R, Dobyns WB.

Genet Med. 2018 Nov;20(11):1354-1364. doi: 10.1038/gim.2018.8. Epub 2018 Apr 19.

PubMed [citation]

PMID:: 29671837
PMCID:: PMC6195491

Details of each submission

From University of Washington Center for Mendelian Genomics, University of Washington, SCV001479432.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (1)

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

Last Updated: Feb 28, 2024

ClinVar

Relating variation to medicine