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

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Apr 5, 2021
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:: RCV001849500.1

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:: Seizure
Synonyms:: Seizures
Identifiers:: MedGen: C0036572; Human Phenotype Ontology: HP:0001250

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
SCV002106986	Yale Center for Mendelian Genomics, Yale University - Yale Center for Mendelian Genomics	no assertion criteria provided	Likely pathogenic (Apr 5, 2021)	de novo	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002106986

Yale Center for Mendelian Genomics, Yale University - Yale Center for Mendelian Genomics

no assertion criteria provided

Likely pathogenic
(Apr 5, 2021)

de novo

literature only

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	de novo	yes	1	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Diverse genetic causes of polymicrogyria with epilepsy.

Epilepsy Phenome/Genome Project, Epi4K Consortium..

Epilepsia. 2021 Apr;62(4):973-983. doi: 10.1111/epi.16854. Epub 2021 Apr 5. Erratum in: Epilepsia. 2021 Aug;62(8):2017.

PubMed [citation]

PMID:: 33818783
PMCID:: PMC10838185

Details of each submission

From Yale Center for Mendelian Genomics, Yale University - Yale Center for Mendelian Genomics, SCV002106986.1

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

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

Last Updated: Feb 28, 2024

ClinVar

Relating variation to medicine