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NM_004415.4(DSP):c.7810A>G (p.Ile2604Val)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Apr 2, 2018)
Last evaluated:
Aug 22, 2017
Accession:
VCV000465912.1
Variation ID:
465912
Description:
single nucleotide variant
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NM_004415.4(DSP):c.7810A>G (p.Ile2604Val)

Allele ID
455843
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6p24.3
Genomic location
6: 7585072 (GRCh38) GRCh38 UCSC
6: 7585305 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.11:g.7585305A>G
NC_000006.12:g.7585072A>G
NM_001008844.3:c.6013A>G NP_001008844.1:p.Ile2005Val missense
... more HGVS
Protein change
I2604V
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Links
ClinGen: CA362693825
dbSNP: rs1301635888
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Aug 22, 2017 RCV000529574.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
DSP Little evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
1369 1405

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Aug 22, 2017)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy with woolly hair and keratoderma
Arrhythmogenic right ventricular cardiomyopathy, type 8
Allele origin: germline
Invitae
Accession: SCV000641345.2
Submitted: (Apr 02, 2018)
Evidence details
Comment:
This sequence change replaces isoleucine with valine at codon 2604 of the DSP protein (p.Ile2604Val). The isoleucine residue is highly conserved and there is a ... (more)

Citations for this variant

There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Oct 27, 2019