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NM_001376.5(DYNC1H1):c.2737G>A (p.Val913Ile)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(2);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Jun 21, 2020
Accession:
VCV000434985.6
Variation ID:
434985
Description:
single nucleotide variant
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NM_001376.5(DYNC1H1):c.2737G>A (p.Val913Ile)

Allele ID
429518
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
14q32.31
Genomic location
14: 101988721 (GRCh38) GRCh38 UCSC
14: 102455058 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000014.8:g.102455058G>A
NC_000014.9:g.101988721G>A
NG_008777.1:g.29194G>A
NM_001376.5:c.2737G>A MANE Select NP_001367.2:p.Val913Ile missense
Protein change
V913I
Other names
-
Canonical SPDI
NC_000014.9:101988720:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
The Genome Aggregation Database (gnomAD) 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00008
Exome Aggregation Consortium (ExAC) 0.00003
The Genome Aggregation Database (gnomAD), exomes 0.00004
The Genome Aggregation Database (gnomAD) 0.00005
Links
ClinGen: CA7351880
dbSNP: rs372740994
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Jun 21, 2020 RCV000649577.4
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations May 3, 2017 RCV000502191.2
Likely benign 1 no assertion criteria provided Jan 1, 2019 RCV001251969.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
DYNC1H1 - - GRCh38
GRCh37
1980 2019

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Feb 08, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Genetic Services Laboratory,University of Chicago
Accession: SCV000594438.1
Submitted: (Jul 05, 2017)
Evidence details
Uncertain significance
(May 03, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000613170.1
Submitted: (Aug 17, 2017)
Evidence details
Publications
PubMed (1)
Likely benign
(Jun 21, 2020)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, axonal, type 2O
Allele origin: germline
Invitae
Accession: SCV000771406.4
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Jan 01, 2019)
no assertion criteria provided
Method: clinical testing
Intellectual disability
Allele origin: uniparental
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille
Accession: SCV001427715.1
Submitted: (May 05, 2020)
Evidence details
Publications
PubMed (1)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1. Strickland AV Journal of neurology 2015 PMID: 26100331
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 Genetics in medicine : official journal of the American College of Medical Genetics 2015 PMID: 25741868

Text-mined citations for rs372740994...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 27, 2021