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NM_000257.4(MYH7):c.5401G>A (p.Glu1801Lys) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 25, 2014
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:
RCV000211834.11

Allele description [Variation Report for NM_000257.4(MYH7):c.5401G>A (p.Glu1801Lys)]

NM_000257.4(MYH7):c.5401G>A (p.Glu1801Lys)

Gene:
MYH7:myosin heavy chain 7 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q11.2
Genomic location:
Preferred name:
NM_000257.4(MYH7):c.5401G>A (p.Glu1801Lys)
Other names:
p.E1801K:GAG>AAG; NM_000257.3(MYH7):c.5401G>A
HGVS:
  • NC_000014.9:g.23415153C>T
  • NG_007884.1:g.25509G>A
  • NM_000257.4:c.5401G>AMANE SELECT
  • NP_000248.2:p.Glu1801Lys
  • LRG_384t1:c.5401G>A
  • LRG_384:g.25509G>A
  • LRG_384p1:p.Glu1801Lys
  • NC_000014.8:g.23884362C>T
  • NM_000257.2:c.5401G>A
  • NM_000257.3:c.5401G>A
  • c.5401G>A
Protein change:
E1801K
Links:
dbSNP: rs397516248
NCBI 1000 Genomes Browser:
rs397516248
Molecular consequence:
  • NM_000257.4:c.5401G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
3

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
Name:
Neuromuscular disease
Synonyms:
Neuromuscular Diseases; Neuromuscular disorder; Neuromyopathy
Identifiers:
MONDO: MONDO:0019056; MeSH: D009468; MedGen: C0027868

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000059616Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Pathogenic
(Nov 25, 2014) 		germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided33not providednot providednot providedclinical testing

Citations

PubMed

165th ENMC International Workshop: distal myopathies 6-8th February 2009 Naarden, The Netherlands.

Udd B.

Neuromuscul Disord. 2009 Jun;19(6):429-38. doi: 10.1016/j.nmd.2009.04.002. Epub 2009 May 27. No abstract available.

PubMed [citation]
PMID:
19477645

Myosinopathies: pathology and mechanisms.

Tajsharghi H, Oldfors A.

Acta Neuropathol. 2013 Jan;125(1):3-18. doi: 10.1007/s00401-012-1024-2. Epub 2012 Aug 5. Review.

PubMed [citation]
PMID:
22918376
PMCID:
PMC3535372
See all PubMed Citations (5)

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000059616.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testing PubMed (5)

Description

The p.Glu1801Lys variant in MYH7 has been reported in 1 individual with early on set distal myopathy and late onset DCM (Udd 2009) as well as 1 individual with e arly onset distal myopathy and HCM (Lamont 2014). The p.Glu1801Lys variant has a lso been identified by our laboratory in three infants with DCM and occurred de novo in two of them (LMM unpublished data). Additionally, this variant was abse nt from large population studies. Glutamic acid (Glu) is highly conserved in mam mals and across evolutionarily distant species and the change to lysine (Lys) wa s predicted to be pathogenic using a computational tool, which was validated by our laboratory using a set of cardiomyopathy variants with well-established clin ical significance. This tool's pathogenic prediction is estimated to be correct 94% of the time (Jordan 2011). In summary, this variant meets our criteria to be classified as pathogenic for Laing distal myopathy with cardiomyopathy in an au tosomal dominant manner (http://www.partners.org/personalizedmedicine/LMM) base d upon absence from controls and multiple de novo occurrences.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided3not provided3not provided

Last Updated: May 1, 2024