NM_001927.4(DES):c.1034T>C (p.Leu345Pro) AND not provided

Clinical significance:Pathogenic (Last evaluated: Jan 3, 2020)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000056765.3

Allele description [Variation Report for NM_001927.4(DES):c.1034T>C (p.Leu345Pro)]

NM_001927.4(DES):c.1034T>C (p.Leu345Pro)

Gene:
DES:desmin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q35
Genomic location:
Preferred name:
NM_001927.4(DES):c.1034T>C (p.Leu345Pro)
HGVS:
  • NC_000002.12:g.219421350T>C
  • NG_008043.1:g.7974T>C
  • NM_001927.4:c.1034T>CMANE SELECT
  • NP_001918.3:p.Leu345Pro
  • LRG_380t1:c.1034T>C
  • LRG_380:g.7974T>C
  • LRG_380p1:p.Leu345Pro
  • NC_000002.11:g.220286072T>C
  • NM_001927.3:c.1034T>C
  • P17661:p.Leu345Pro
Protein change:
L345P; LEU345PRO
Links:
NCBI 1000 Genomes Browser:
rs57639980
Molecular consequence:
  • NM_001927.4:c.1034T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000087878Epithelial Biology; Institute of Medical Biology, Singaporeno assertion providednot providednot providednot provided

SCV000841804Athena Diagnostics Inccriteria provided, single submitter
Pathogenic
(Jul 17, 2018)
germlineclinical testing

PubMed (8)
[See all records that cite these PMIDs]

SCV001433465Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institutecriteria provided, single submitter
Pathogenic
(Jan 3, 2020)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providednot providednot providednot providednot providednot provided1not providedliterature only

Citations

PubMed

Aggregate-prone desmin mutations impair mitochondrial calcium uptake in primary myotubes.

Smolina N, Bruton J, Sjoberg G, Kostareva A, Sejersen T.

Cell Calcium. 2014 Oct;56(4):269-75. doi: 10.1016/j.ceca.2014.08.001. Epub 2014 Aug 10.

PubMed [citation]
PMID:
25171807

High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study.

Wahbi K, Béhin A, Charron P, Dunand M, Richard P, Meune C, Vicart P, Laforêt P, Stojkovic T, Bécane HM, Kuntzer T, Duboc D.

Neuromuscul Disord. 2012 Mar;22(3):211-8. doi: 10.1016/j.nmd.2011.10.019. Epub 2011 Dec 5.

PubMed [citation]
PMID:
22153487
See all PubMed Citations (9)

Details of each submission

From Epithelial Biology; Institute of Medical Biology, Singapore, SCV000087878.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot provided1not providednot providednot providednot providednot providednot provided

From Athena Diagnostics Inc, SCV000841804.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (8)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute, SCV001433465.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2021

Support Center