NM_001943.5(DSG2):c.581C>T (p.Ser194Leu) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Oct 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:
RCV001560109.2

Allele description [Variation Report for NM_001943.5(DSG2):c.581C>T (p.Ser194Leu)]

NM_001943.5(DSG2):c.581C>T (p.Ser194Leu)

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.581C>T (p.Ser194Leu)
HGVS:
  • NC_000018.10:g.31522140C>T
  • NG_007072.3:g.28899C>T
  • NM_001943.5:c.581C>TMANE SELECT
  • NP_001934.2:p.Ser194Leu
  • LRG_397t1:c.581C>T
  • LRG_397:g.28899C>T
  • NC_000018.9:g.29102103C>T
  • NM_001943.3:c.581C>T
  • c.581C>T
Protein change:
S194L
Links:
dbSNP: rs374875442
NCBI 1000 Genomes Browser:
rs374875442
Molecular consequence:
  • NM_001943.5:c.581C>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
SCV001782450GeneDxcriteria provided, single submitter
Uncertain significance
(Oct 25, 2019)
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, SCV001782450.1

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

Description

Reported with a different missense variant on the opposite allele (in trans) in an individual with ARVC, and observed in apparent homozygous state in another individual with ARVC in published literature (Nakajima et al., 2012; Shapieva et al., 2014); in one family, S194L segregated in an unaffected relative and a relative whose echocardiogram showed a minor right ventricular structural abnormality, but their EKG was not suggestive of ARVC (Nakajima et al., 2012); Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 44324; Landrum et al., 2016), and one clinical laboratory identified this variant in a child with clinical features of DCM and ARVC (SCV000060969.4; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 30177324, 22214898, 23299917)

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

Last Updated: Sep 23, 2021

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