NM_001943.5(DSG2):c.653G>T (p.Gly218Val) AND not provided

Clinical significance:Uncertain significance (Last evaluated: May 8, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000181207.2

Allele description [Variation Report for NM_001943.5(DSG2):c.653G>T (p.Gly218Val)]

NM_001943.5(DSG2):c.653G>T (p.Gly218Val)

Gene:
DSG2:desmoglein 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q12.1
Genomic location:
Preferred name:
NM_001943.5(DSG2):c.653G>T (p.Gly218Val)
Other names:
p.G218V:GGA>GTA
HGVS:
  • NC_000018.10:g.31522212G>T
  • NG_007072.3:g.28971G>T
  • NM_001943.5:c.653G>TMANE SELECT
  • NP_001934.2:p.Gly218Val
  • LRG_397t1:c.653G>T
  • LRG_397:g.28971G>T
  • NC_000018.9:g.29102175G>T
  • NM_001943.3:c.653G>T
Protein change:
G218V
Links:
dbSNP: rs794728082
NCBI 1000 Genomes Browser:
rs794728082
Molecular consequence:
  • NM_001943.5:c.653G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000233485GeneDxcriteria provided, single submitter
Uncertain significance
(May 8, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000233485.10

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The G218V variant in the DSG2 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Although G218V results in a conservative amino acid substitution of one non-polar residue for another, the G218 residue is conserved across species. In silico analysis predicts G218V is probably damaging to the protein structure/function. Mutations in nearby residues (P205L, E230G) have been reported in association with ARVC, further supporting the functional importance of this region of the protein. Furthermore, the G218V variant was not observed in approximately 6,000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Mutations in nearby residues (P205L, E230G) have been reported in association with ARVC, further supporting the functional importance of this region of the protein. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in ARVC panel(s).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 27, 2021

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