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NM_001943.5(DSG2):c.1768G>C (p.Val590Leu)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Apr 11, 2019
Accession:
VCV000859338.3
Variation ID:
859338
Description:
single nucleotide variant
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NM_001943.5(DSG2):c.1768G>C (p.Val590Leu)

Allele ID
846790
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
18q12.1
Genomic location
18: 31538867 (GRCh38) GRCh38 UCSC
18: 29118830 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000018.10:g.31538867G>C
NC_000018.9:g.29118830G>C
NG_007072.3:g.45626G>C
... more HGVS
Protein change
V590L
Other names
-
Canonical SPDI
NC_000018.10:31538866: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 Apr 11, 2019 RCV001065422.1
Uncertain significance 1 criteria provided, single submitter Dec 19, 2018 RCV001190025.1
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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

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Dec 19, 2018)
criteria provided, single submitter
Method: clinical testing
Cardiomyopathy
Allele origin: germline
Color Health, Inc
Accession: SCV001357436.1
Submitted: (May 19, 2020)
Comment:
Variant of Uncertain Significance due to insufficient evidence: This missense variant is located in the transmembrane domain of the DSG2 protein. Computational prediction tools and … (more)
Evidence details
Uncertain significance
(Apr 11, 2019)
criteria provided, single submitter
Method: clinical testing
Arrhythmogenic right ventricular cardiomyopathy, type 10
Allele origin: germline
Invitae
Accession: SCV001230378.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces valine with leucine at codon 590 of the DSG2 protein (p.Val590Leu). The valine residue is highly 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 Oct 08, 2021