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NM_001943.5(DSG2):c.2758G>C (p.Val920Leu)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Mar 5, 2020
Accession:
VCV001062472.1
Variation ID:
1062472
Description:
single nucleotide variant
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NM_001943.5(DSG2):c.2758G>C (p.Val920Leu)

Allele ID
1050895
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
18q12.1
Genomic location
18: 31546144 (GRCh38) GRCh38 UCSC
18: 29126107 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000018.10:g.31546144G>C
NC_000018.9:g.29126107G>C
NM_001943.5:c.2758G>C MANE Select NP_001934.2:p.Val920Leu missense
... more HGVS
Protein change
V920L
Other names
-
Canonical SPDI
NC_000018.10:31546143:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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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 Mar 5, 2020 RCV001372194.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
DSG2 Little evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
638 1094
DSG2-AS1 - - - GRCh38 - 435

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Mar 05, 2020)
criteria provided, single submitter
Method: clinical testing
Arrhythmogenic right ventricular cardiomyopathy, type 10
Allele origin: germline
Invitae
Accession: SCV001568804.1
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces valine with leucine at codon 920 of the DSG2 protein (p.Val920Leu). The valine residue is moderately conserved and there is a … (more)

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.

Record last updated Apr 18, 2021