NM_000257.2(MYH7):c.5754C>R (p.Asn1918Lys) AND Left ventricular noncompaction 5

Clinical significance:Pathogenic (Last evaluated: Feb 1, 2011)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000056317.25

Allele description [Variation Report for NM_000257.2(MYH7):c.5754C>R (p.Asn1918Lys)]

NM_000257.2(MYH7):c.5754C>R (p.Asn1918Lys)

Gene:
MYH7:myosin heavy chain 7 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q12
Genomic location:
Preferred name:
NM_000257.2(MYH7):c.5754C>R (p.Asn1918Lys)
HGVS:
  • NG_007884.1:g.26867C>R
  • NM_000257.2:c.5754C>R
  • NP_000248.2:p.Asn1918Lys
  • LRG_384:g.26867C>R
  • LRG_384p1:p.Asn1918Lys
Protein change:
N1918K; ASN1918LYS
Links:
OMIM: 160760.0046; dbSNP: 138110910
GMAF:
0.0002(A), 138110910
NCBI 1000 Genomes Browser:
rs138110910

Condition(s)

Name:
Left ventricular noncompaction 5 (LVNC5)
Identifiers:
MedGen: C3150690

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
SCV000087486OMIMno assertion criteria providedPathogenic
(Feb 1, 2011)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

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

Details of each submission

From OMIM, SCV000087486.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In 4 affected individuals over 3 generations of a white family of western European descent with left ventricular noncompaction (LVNC5; 613426), Postma et al. (2011) identified heterozygosity for a mutation in exon 39 of the MYH7 gene, resulting in an asn1918-to-lys (N1918K) substitution at a conserved residue. The mutation segregated with disease in the family and was not found in more than 980 ethnically matched control chromosomes. In addition to marked LVNC, the 39-year-old proband exhibited Ebstein anomaly, which was discovered upon evaluation of a cardiac murmur at 3 years of age. She remained asymptomatic despite significant tricuspid regurgitation from age 30 years. She had a mutation-positive son with bicuspid aortic valve and aortic coarctation in whom echocardiography at age 5 years also showed LVNC. Her asymptomatic mutation-positive mother and brother were both found to have LVNC by echocardiography, and her brother also had LV dilation with dysfunction. In an asymptomatic mutation-positive cousin, cardiomyopathy could not be ruled out due to poor imaging quality.

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

Last Updated: Sep 5, 2017