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NM_004415.4(DSP):c.6181C>G (p.Pro2061Ala)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Nov 6, 2018)
Last evaluated:
Oct 31, 2018
Accession:
VCV000629635.1
Variation ID:
629635
Description:
single nucleotide variant
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NM_004415.4(DSP):c.6181C>G (p.Pro2061Ala)

Allele ID
617319
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6p24.3
Genomic location
6: 7583443 (GRCh38) GRCh38 UCSC
6: 7583676 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.11:g.7583676C>G
NC_000006.12:g.7583443C>G
NM_001008844.3:c.4384C>G NP_001008844.1:p.Pro1462Ala missense
... more HGVS
Protein change
P2061A
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1561702055
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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 Oct 31, 2018 RCV000774345.1
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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
(Oct 31, 2018)
criteria provided, single submitter
Method: clinical testing
Cardiomyopathy
Allele origin: germline
Color
Accession: SCV000908047.1
Submitted: (Nov 06, 2018)
Evidence details
Comment:
Variant of Uncertain Significance due to insufficient evidence: This missense variant is located in the C-terminal plakin repeat domain A of the DSP protein. Computational ... (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