NM_000257.3(MYH7):c.3658_3660delGAG (p.Glu1220del) AND Primary dilated cardiomyopathy

Clinical significance:Likely pathogenic (Last evaluated: Jan 14, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000035861.3

Allele description [Variation Report for NM_000257.3(MYH7):c.3658_3660delGAG (p.Glu1220del)]

NM_000257.3(MYH7):c.3658_3660delGAG (p.Glu1220del)

Gene:
MYH7:myosin heavy chain 7 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
14q11.2
Genomic location:
Preferred name:
NM_000257.3(MYH7):c.3658_3660delGAG (p.Glu1220del)
HGVS:
  • NC_000014.9:g.23419911_23419913delCTC
  • NG_007884.1:g.20749_20751delGAG
  • NM_000257.3:c.3658_3660delGAG
  • NP_000248.2:p.Glu1220del
  • LRG_384t1:c.3658_3660delGAG
  • LRG_384:g.20749_20751delGAG
  • LRG_384p1:p.Glu1220del
  • NC_000014.8:g.23889120_23889122del
  • NC_000014.8:g.23889120_23889122delCTC
  • NM_000257.2:c.3658_3660delGAG
  • c.3658_3660delGAG
Protein change:
E1220del
Links:
dbSNP: 397516190
NCBI 1000 Genomes Browser:
rs397516190
Molecular consequence:
  • NM_000257.3:c.3658_3660delGAG - inframe_variant - [Sequence Ontology: SO:0001650]
Observations:
1

Condition(s)

Name:
Primary dilated cardiomyopathy (DCM)
Synonyms:
Cardiomyopathy, congestive
Identifiers:
MedGen: C0007193

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000059512Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicinecriteria provided, single submitter
Likely pathogenic
(Jan 14, 2014)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided41not providednot providednot providedclinical testing

Citations

PubMed

Mutations in the sarcomere gene MYH7 in Ebstein anomaly.

Postma AV, van Engelen K, van de Meerakker J, Rahman T, Probst S, Baars MJ, Bauer U, Pickardt T, Sperling SR, Berger F, Moorman AF, Mulder BJ, Thierfelder L, Keavney B, Goodship J, Klaassen S.

Circ Cardiovasc Genet. 2011 Feb;4(1):43-50. doi: 10.1161/CIRCGENETICS.110.957985. Epub 2010 Dec 2.

PubMed [citation]
PMID:
21127202

Familial ebstein anomaly, left ventricular hypertrabeculation, and ventricular septal defect associated with a MYH7 mutation.

Bettinelli AL, Mulder TJ, Funke BH, Lafferty KA, Longo SA, Niyazov DM.

Am J Med Genet A. 2013 Dec;161A(12):3187-90. doi: 10.1002/ajmg.a.36182. Epub 2013 Aug 16.

PubMed [citation]
PMID:
23956225
See all PubMed Citations (3)

Details of each submission

From Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine, SCV000059512.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided4not providednot providedclinical testing PubMed (3)

Description

The Glu1220del variant in MYH7 has been reported in one sporadic case with Ebstein's anomaly and LVNC, was absent from 980 control chromosomes (Postma 2010). In addition, this variant has been identified in one individual with Ebstein's anomaly (this individual) by our laboratory and was present in 3 affected children who had Ebstein’s anomaly +/- LVNC. In summary, this variant is likely to be pathogenic based on segregation with disease, absence in controls and consistency of clinical findings in all reported cases so far though additional studies are required to fully establish its clinical significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided4not provided1not provided

Last Updated: May 22, 2017