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NM_001943.5(DSG2):c.14C>T (p.Pro5Leu)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Nov 30, 2020)
Last evaluated:
Jan 3, 2017
Accession:
VCV000496147.3
Variation ID:
496147
Description:
single nucleotide variant
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NM_001943.5(DSG2):c.14C>T (p.Pro5Leu)

Allele ID
487790
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
18q12.1
Genomic location
18: 31498265 (GRCh38) GRCh38 UCSC
18: 29078228 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000018.10:g.31498265C>T
NC_000018.9:g.29078228C>T
NM_001943.5:c.14C>T MANE Select NP_001934.2:p.Pro5Leu missense
... more HGVS
Protein change
P5L
Other names
-
Canonical SPDI
NC_000018.10:31498264:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00040 (T)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Exome Aggregation Consortium (ExAC) 0.00000
1000 Genomes Project 0.00040
Links
dbSNP: rs530517936
ClinGen: CA042679
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 Jan 3, 2017 RCV000588536.1
Uncertain significance 1 criteria provided, single submitter Nov 9, 2016 RCV000619285.1
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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
(Jan 03, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000697883.1
Submitted: (Jan 25, 2018)
Evidence details
Comment:
Variant summary: The DSG2 c.14C>T (p.Pro5Leu) variant involves the alteration of a non-conserved nucleotide, which 2/4 in silico tools (SNPs&GO not captured due to low … (more)
Uncertain significance
(Nov 09, 2016)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000737791.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The p.P5L variant (also known as c.14C>T), located in coding exon 1 of the DSG2 gene, results from a C to T substitution at nucleotide … (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.

Text-mined citations for rs530517936...

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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 Jun 14, 2021