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NM_001376.5(DYNC1H1):c.10031G>A (p.Arg3344Gln) AND Intellectual disability, autosomal dominant 13

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 1, 2013
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:
RCV000049272.7

Allele description [Variation Report for NM_001376.5(DYNC1H1):c.10031G>A (p.Arg3344Gln)]

NM_001376.5(DYNC1H1):c.10031G>A (p.Arg3344Gln)

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.10031G>A (p.Arg3344Gln)
HGVS:
  • NC_000014.9:g.102032419G>A
  • NG_008777.1:g.72892G>A
  • NM_001376.5:c.10031G>AMANE SELECT
  • NP_001367.2:p.Arg3344Gln
  • NC_000014.8:g.102498756G>A
  • NM_001376.4:c.10031G>A
  • Q14204:p.Arg3344Gln
Protein change:
R3344Q; ARG3344GLN
Links:
UniProtKB: Q14204#VAR_070586; OMIM: 600112.0009; dbSNP: rs397509412
NCBI 1000 Genomes Browser:
rs397509412
Molecular consequence:
  • NM_001376.5:c.10031G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Intellectual disability, autosomal dominant 13 (CDCBM13)
Synonyms:
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 13
Identifiers:
MONDO: MONDO:0013805; MedGen: C3281202; OMIM: 614563

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000077529OMIM
no assertion criteria provided
Pathogenic
(Jun 1, 2013) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.

Poirier K, Lebrun N, Broix L, Tian G, Saillour Y, Boscheron C, Parrini E, Valence S, Pierre BS, Oger M, Lacombe D, Geneviève D, Fontana E, Darra F, Cances C, Barth M, Bonneau D, Bernadina BD, N'guyen S, Gitiaux C, Parent P, des Portes V, et al.

Nat Genet. 2013 Jun;45(6):639-47. doi: 10.1038/ng.2613. Epub 2013 Apr 21. Erratum in: Nat Genet. 2013 Aug;45(8):962.

PubMed [citation]
PMID:
23603762
PMCID:
PMC3826256

Details of each submission

From OMIM, SCV000077529.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In 2 unrelated children (P535 and 574C) with complex cortical dysplasia with other brain malformations-13 (CDCBM13; 614563), Poirier et al. (2013) identified a de novo heterozygous c.10031G-A transition (c.10031G-A, NM_001376) in the DYNC1H1 gene, resulting in an arg3344-to-gln (R3344Q) substitution at a conserved residue in the microtubule-binding domain. One patient was a 5-year-old with severe intellectual disability and autistic features, early-onset epileptic encephalopathy, and MRI findings of posterior agyria, nodular heterotopia, and dysmorphic basal ganglia and corpus callosum. The other patient was a 3-year-old with moderate intellectual disability, focal seizures, and MRI findings of posterior pachygyria and small cerebellar vermis.

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

Last Updated: Sep 29, 2024