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NM_000257.4(MYH7):c.5530G>A (p.Glu1844Lys) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 15, 2024
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:
RCV002345541.3

Allele description [Variation Report for NM_000257.4(MYH7):c.5530G>A (p.Glu1844Lys)]

NM_000257.4(MYH7):c.5530G>A (p.Glu1844Lys)

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.5530G>A (p.Glu1844Lys)
Other names:
p.E1844K:GAG>AAG; NM_000257.4(MYH7):c.5530G>A; p.Glu1844Lys
HGVS:
  • NC_000014.9:g.23415024C>T
  • NG_007884.1:g.25638G>A
  • NM_000257.4:c.5530G>AMANE SELECT
  • NP_000248.2:p.Glu1844Lys
  • LRG_384t1:c.5530G>A
  • LRG_384:g.25638G>A
  • NC_000014.8:g.23884233C>T
  • NC_000014.8:g.23884233C>T
  • NM_000257.2:c.5530G>A
  • NM_000257.3:c.5530G>A
Protein change:
E1844K
Links:
dbSNP: rs730880821
NCBI 1000 Genomes Browser:
rs730880821
Molecular consequence:
  • NM_000257.4:c.5530G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002653712Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 15, 2024) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

Walsh R, Thomson KL, Ware JS, Funke BH, Woodley J, McGuire KJ, Mazzarotto F, Blair E, Seller A, Taylor JC, Minikel EV, Exome Aggregation Consortium, MacArthur DG, Farrall M, Cook SA, Watkins H.

Genet Med. 2017 Feb;19(2):192-203. doi: 10.1038/gim.2016.90. Epub 2016 Aug 17.

PubMed [citation]
PMID:
27532257
PMCID:
PMC5116235

Details of each submission

From Ambry Genetics, SCV002653712.3

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

Description

The p.E1844K variant (also known as c.5530G>A), located in coding exon 35 of the MYH7 gene, results from a G to A substitution at nucleotide position 5530. The glutamic acid at codon 1844 is replaced by lysine, an amino acid with similar properties. This variant was detected in a cardiomyopathy genetic testing cohort; however clinical details were not provided (Walsh R et al. Genet. Med., 2017 02;19:192-203). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Jan 19, 2025