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NM_004415.4(DSP):c.7570_7573del (p.Thr2524fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Jul 15, 2020
Accession:
VCV000560379.2
Variation ID:
560379
Description:
4bp deletion
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NM_004415.4(DSP):c.7570_7573del (p.Thr2524fs)

Allele ID
551428
Variant type
Deletion
Variant length
4 bp
Cytogenetic location
6p24.3
Genomic location
6: 7584830-7584833 (GRCh38) GRCh38 UCSC
6: 7585063-7585066 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.12:g.7584832_7584835del
LRG_423:g.48196_48199del
NC_000006.11:g.7585065_7585068del
... more HGVS
Protein change
T1925fs, T2524fs, T2081fs
Other names
-
Canonical SPDI
NC_000006.12:7584829:AGACAG:AG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1561703922
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Jul 15, 2020 RCV001381245.1
Likely pathogenic 1 no assertion criteria provided - RCV000678479.1
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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
2583 2627

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jul 15, 2020)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy with woolly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Allele origin: germline
Invitae
Accession: SCV001579564.1
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change results in a premature translational stop signal in the DSP gene (p.Thr2524Alafs*36). While this is not anticipated to result in nonsense mediated … (more)
Likely pathogenic
(-)
no assertion criteria provided
Method: clinical testing
Primary dilated cardiomyopathy
Allele origin: unknown
Institute of Human Genetics,University of Wuerzburg
Accession: SCV000804542.1
Submitted: (Sep 05, 2018)
Evidence details

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

Text-mined citations for rs1561703922...

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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 Oct 08, 2021