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NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 31, 2018
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000762919.4

Allele description [Variation Report for NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys)]

NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys)

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.1792C>T (p.Arg598Cys)
HGVS:
  • NC_000014.9:g.101986017C>T
  • NG_008777.1:g.26490C>T
  • NM_001376.5:c.1792C>TMANE SELECT
  • NP_001367.2:p.Arg598Cys
  • NC_000014.8:g.102452354C>T
  • NM_001376.4:c.1792C>T
  • Q14204:p.Arg598Cys
Protein change:
R598C
Links:
UniProtKB: Q14204#VAR_073157; dbSNP: rs587780564
NCBI 1000 Genomes Browser:
rs587780564
Molecular consequence:
  • NM_001376.5:c.1792C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Synonyms:
KUGELBERG-WELANDER SYNDROME, AUTOSOMAL DOMINANT; SPINAL MUSCULAR ATROPHY, JUVENILE, PROXIMAL, AUTOSOMAL DOMINANT; SPINAL MUSCULAR ATROPHY, CHILDHOOD, PROXIMAL, AUTOSOMAL DOMINANT; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008026; MedGen: C5780022; Orphanet: 363447; OMIM: 158600
Name:
Charcot-Marie-Tooth disease axonal type 2O
Synonyms:
CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2O; CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2O; Charcot-Marie-Tooth disease, axonal, type 20; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0013644; MedGen: C3280220; Orphanet: 284232; OMIM: 614228
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
SCV000893334Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Oct 31, 2018) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753
PMC

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL.

Genetics in medicine : official journal of the American College of Medical Genetics. 2015 Mar 5; 17(5): 405-424

PMC [article]
PMCID:
PMC4544753
PMID:
25741868
DOI:
10.1038/gim.2015.30

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV000893334.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024