U.S. flag

An official website of the United States government

NM_004415.4(DSP):c.3200C>T (p.Ala1067Val) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 19, 2017
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000612806.4

Allele description [Variation Report for NM_004415.4(DSP):c.3200C>T (p.Ala1067Val)]

NM_004415.4(DSP):c.3200C>T (p.Ala1067Val)

Gene:
DSP:desmoplakin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p24.3
Genomic location:
Preferred name:
NM_004415.4(DSP):c.3200C>T (p.Ala1067Val)
HGVS:
  • NC_000006.12:g.7579390C>T
  • NG_008803.1:g.42754C>T
  • NM_001008844.3:c.3200C>T
  • NM_001319034.2:c.3200C>T
  • NM_004415.4:c.3200C>TMANE SELECT
  • NP_001008844.1:p.Ala1067Val
  • NP_001305963.1:p.Ala1067Val
  • NP_004406.2:p.Ala1067Val
  • LRG_423t1:c.3200C>T
  • LRG_423:g.42754C>T
  • NC_000006.11:g.7579623C>T
  • NM_004415.2:c.3200C>T
Protein change:
A1067V
Links:
dbSNP: rs1317030435
NCBI 1000 Genomes Browser:
rs1317030435
Molecular consequence:
  • NM_001008844.3:c.3200C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001319034.2:c.3200C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004415.4:c.3200C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000731663Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Uncertain significance
(May 19, 2017) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000731663.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

The p.Ala1067Val variant in DSP has not been previously reported in individuals with cardiomyopathy or in large population studies. Computational prediction too ls and conservation analysis suggest that the p.Ala1067Val variant may not impac t the protein, though this information is not predictive enough to rule out path ogenicity. While this variant is located within an exon, computational tools sug gest the creation of a novel splice site; however, this information is not predi ctive enough to determine pathogenicity. In summary, the clinical significance o f the p.Ala1067Val variant is uncertain.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Dec 24, 2022