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NM_001376.5(DYNC1H1):c.751C>T (p.Arg251Cys) AND Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 24, 2023
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:
RCV003325406.3

Allele description [Variation Report for NM_001376.5(DYNC1H1):c.751C>T (p.Arg251Cys)]

NM_001376.5(DYNC1H1):c.751C>T (p.Arg251Cys)

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.751C>T (p.Arg251Cys)
HGVS:
  • NC_000014.9:g.101979951C>T
  • NG_008777.1:g.20424C>T
  • NM_001376.5:c.751C>TMANE SELECT
  • NP_001367.2:p.Arg251Cys
  • NC_000014.8:g.102446288C>T
  • NM_001376.4:c.751C>T
Protein change:
R251C
Links:
dbSNP: rs879253979
NCBI 1000 Genomes Browser:
rs879253979
Molecular consequence:
  • NM_001376.5:c.751C>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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003836497Département de Neurologie, Hospices Civils de Lyon
no assertion criteria provided
Likely pathogenic
(Feb 24, 2023) 		unknownclinical testing

Help

Summary from all submissions

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

Details of each submission

From Département de Neurologie, Hospices Civils de Lyon, SCV003836497.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 22, 2025