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NM_004415.4(DSP):c.1045-8T>A

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 21, 2019)
Last evaluated:
Jan 31, 2017
Accession:
VCV000517257.1
Variation ID:
517257
Description:
single nucleotide variant
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NM_004415.4(DSP):c.1045-8T>A

Allele ID
496870
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6p24.3
Genomic location
6: 7567346 (GRCh38) GRCh38 UCSC
6: 7567579 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.11:g.7567579T>A
NC_000006.12:g.7567346T>A
NM_001008844.3:c.1045-8T>A
... more HGVS
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA658796706
dbSNP: rs201633815
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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 Jan 31, 2017 RCV000615703.1
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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
(Jan 31, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000731443.1
Submitted: (Mar 21, 2019)
Evidence details
Comment:
The c.1045-8T>A variant in DSP has not been previously reported in individuals w ith cardiomyopathy and was absent from large population studies. This variant is ... (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 Jan 18, 2020