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NM_001943.5(DSG2):c.513G>T (p.Leu171Phe)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Mar 17, 2020
Accession:
VCV000577605.4
Variation ID:
577605
Description:
single nucleotide variant
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NM_001943.5(DSG2):c.513G>T (p.Leu171Phe)

Allele ID
572617
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
18q12.1
Genomic location
18: 31521233 (GRCh38) GRCh38 UCSC
18: 29101196 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_397:g.27992G>T
NC_000018.10:g.31521233G>T
NC_000018.9:g.29101196G>T
... more HGVS
Protein change
L171F
Other names
-
Canonical SPDI
NC_000018.10:31521232:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00011
The Genome Aggregation Database (gnomAD), exomes 0.00002
The Genome Aggregation Database (gnomAD) 0.00003
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00017
Exome Aggregation Consortium (ExAC) 0.00002
Links
dbSNP: rs199926617
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 17, 2020 RCV000700406.3
Uncertain significance 1 criteria provided, single submitter Nov 25, 2019 RCV001193615.1
Uncertain significance 1 criteria provided, single submitter Sep 27, 2019 RCV001192198.1
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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
(Mar 17, 2020)
criteria provided, single submitter
Method: clinical testing
Arrhythmogenic right ventricular cardiomyopathy, type 10
Allele origin: germline
Invitae
Accession: SCV000829159.3
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces leucine with phenylalanine at codon 171 of the DSG2 protein (p.Leu171Phe). The leucine residue is highly conserved and there is a … (more)
Uncertain significance
(Sep 27, 2019)
criteria provided, single submitter
Method: clinical testing
Cardiomyopathy
Allele origin: germline
Color Health, Inc
Accession: SCV001360222.1
Submitted: (May 19, 2020)
Comment:
This missense variant replaces leucine with phenylalanine at codon 171 of the DSG2 protein. Computational prediction suggests that this variant may not impact protein structure … (more)
Evidence details
Uncertain significance
(Nov 25, 2019)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001362564.1
Submitted: (Mar 06, 2020)
Evidence details
Publications
PubMed (1)
Comment:
Variant summary: DSG2 c.513G>T (p.Leu171Phe) results in a non-conservative amino acid change located in the second cadherin repeat (IPR002126) of the encoded protein sequence. Three … (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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Title Author Journal Year Link
Multifactorial Origin of Exertional Rhabdomyolysis, Recurrent Hematuria, and Episodic Pain in a Service Member with Sickle Cell Trait. Sambuughin N Case reports in genetics 2018 PMID: 30533233
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532

Text-mined citations for rs199926617...

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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 Oct 08, 2021