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NM_004415.4(DSP):c.1067C>A (p.Thr356Lys) AND Primary dilated cardiomyopathy

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 24, 2016
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000414775.2

Allele description [Variation Report for NM_004415.4(DSP):c.1067C>A (p.Thr356Lys)]

NM_004415.4(DSP):c.1067C>A (p.Thr356Lys)

Gene:
DSP:desmoplakin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p24.3
Genomic location:
Preferred name:
NM_004415.4(DSP):c.1067C>A (p.Thr356Lys)
Other names:
p.T356K:ACG>AAG
HGVS:
  • NC_000006.12:g.7567376C>A
  • NG_008803.1:g.30740C>A
  • NM_001008844.3:c.1067C>A
  • NM_001319034.2:c.1067C>A
  • NM_004415.4:c.1067C>AMANE SELECT
  • NP_001008844.1:p.Thr356Lys
  • NP_001305963.1:p.Thr356Lys
  • NP_004406.2:p.Thr356Lys
  • LRG_423t1:c.1067C>A
  • LRG_423:g.30740C>A
  • NC_000006.11:g.7567609C>A
  • NM_004415.2:c.1067C>A
Protein change:
T356K
Links:
dbSNP: rs780626687
NCBI 1000 Genomes Browser:
rs780626687
Molecular consequence:
  • NM_001008844.3:c.1067C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001319034.2:c.1067C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004415.4:c.1067C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Primary dilated cardiomyopathy (DCM)
Synonyms:
Dilated Cardiomyopathy
Identifiers:
EFO: EFO_0000407; MONDO: MONDO:0005021; MeSH: D002311; MedGen: C0007193; Human Phenotype Ontology: HP:0001644

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000492592Centre for Mendelian Genomics, University Medical Centre Ljubljana
no assertion criteria provided
Uncertain significance
(Mar 24, 2016) 		unknownclinical testing

Help

Summary from all submissions

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

Details of each submission

From Centre for Mendelian Genomics, University Medical Centre Ljubljana, SCV000492592.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 16, 2024