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NM_004415.4(DSP):c.3763A>G (p.Arg1255Gly)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 29, 2019)
Last evaluated:
Sep 14, 2017
Accession:
VCV000452071.2
Variation ID:
452071
Description:
single nucleotide variant
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NM_004415.4(DSP):c.3763A>G (p.Arg1255Gly)

Allele ID
444009
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6p24.3
Genomic location
6: 7579953 (GRCh38) GRCh38 UCSC
6: 7580186 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.11:g.7580186A>G
NC_000006.12:g.7579953A>G
NM_001319034.2:c.3763A>G NP_001305963.1:p.Arg1255Gly missense
... more HGVS
Protein change
R1255G
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00000
Links
ClinGen: CA362684802
dbSNP: rs1477870659
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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 Sep 14, 2017 RCV000521754.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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
(Sep 14, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000620846.2
Submitted: (Jan 29, 2019)
Evidence details
Comment:
A variant of uncertain significance has been identified in the DSP gene. The R1255G variant has not been published as pathogenic or been reported as ... (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