NM_001943.5(DSG2):c.513G>T (p.Leu171Phe) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Nov 25, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001193615.1

Allele description [Variation Report for NM_001943.5(DSG2):c.513G>T (p.Leu171Phe)]

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

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.513G>T (p.Leu171Phe)
HGVS:
  • NC_000018.10:g.31521233G>T
  • NG_007072.3:g.27992G>T
  • NM_001943.5:c.513G>TMANE SELECT
  • NP_001934.2:p.Leu171Phe
  • LRG_397t1:c.513G>T
  • LRG_397:g.27992G>T
  • NC_000018.9:g.29101196G>T
  • NM_001943.3:c.513G>T
  • NM_001943.4:c.513G>T
Protein change:
L171F
Links:
dbSNP: rs199926617
NCBI 1000 Genomes Browser:
rs199926617
Molecular consequence:
  • NM_001943.5:c.513G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001362564Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Uncertain significance
(Nov 25, 2019)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Summary from all submissions

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

Citations

PubMed

Multifactorial Origin of Exertional Rhabdomyolysis, Recurrent Hematuria, and Episodic Pain in a Service Member with Sickle Cell Trait.

Sambuughin N, Ren M, Capacchione JF, Mungunsukh O, Chuang K, Horkayne-Szakaly I, O'Connor FG, Deuster PA.

Case Rep Genet. 2018;2018:6898546. doi: 10.1155/2018/6898546.

PubMed [citation]
PMID:
30533233
PMCID:
PMC6247656

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001362564.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

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 of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 2.4e-05 in 248796 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.513G>T has been reported in the literature in an individual affected with exertional rhabdomyolysis, hematuria/proteinuria and episodic pain syndrome, who also carried other pathogenic and potentially pathogenic variants that could explain his phenotype (Sambuughin_2018). This report does not provide an unequivocal conclusion about association of the variant with Cardiomyopathy. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. A ClinVar submission (evaluation after 2014) cites the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: Oct 8, 2021

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