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NM_001376.5(DYNC1H1):c.1867T>C (p.Phe623Leu) AND Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 22, 2022
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:
RCV002052120.1

Allele description [Variation Report for NM_001376.5(DYNC1H1):c.1867T>C (p.Phe623Leu)]

NM_001376.5(DYNC1H1):c.1867T>C (p.Phe623Leu)

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.1867T>C (p.Phe623Leu)
HGVS:
  • NC_000014.9:g.101986092T>C
  • NG_008777.1:g.26565T>C
  • NM_001376.5:c.1867T>CMANE SELECT
  • NP_001367.2:p.Phe623Leu
  • NC_000014.8:g.102452429T>C
Protein change:
F623L
Links:
dbSNP: rs2141274749
NCBI 1000 Genomes Browser:
rs2141274749
Molecular consequence:
  • NM_001376.5:c.1867T>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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
SCV0023185863billion
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Mar 22, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not 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

Details of each submission

From 3billion, SCV002318586.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

Different nucleotide change resulting in same amino acid change has been previously reported to be associated with DYNC1H1 related disorder (PS1, ClinVar ID: VCV000373146). In silico tool predictions suggest damaging effect of the variant on gene or gene product(REVEL: 0.752>=0.6).Missense changes are a common disease-causing mechanism. It is not observed in the gnomAD v2.1.1 dataset. Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Jun 17, 2024