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NM_000257.4(MYH7):c.550A>C (p.Lys184Gln) AND Cardiovascular phenotype

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 12, 2022
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:
RCV002345544.2

Allele description [Variation Report for NM_000257.4(MYH7):c.550A>C (p.Lys184Gln)]

NM_000257.4(MYH7):c.550A>C (p.Lys184Gln)

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.550A>C (p.Lys184Gln)
Other names:
p.K184Q:AAG>CAG; NM_000257.4(MYH7):c.550A>C; p.Lys184Gln
HGVS:
  • NC_000014.9:g.23431850T>G
  • NG_007884.1:g.8812A>C
  • NM_000257.4:c.550A>CMANE SELECT
  • NP_000248.2:p.Lys184Gln
  • LRG_384t1:c.550A>C
  • LRG_384:g.8812A>C
  • NC_000014.8:g.23901059T>G
  • NC_000014.8:g.23901059T>G
  • NM_000257.2:c.550A>C
  • NM_000257.3:c.550A>C
Protein change:
K184Q
Links:
dbSNP: rs730880843
NCBI 1000 Genomes Browser:
rs730880843
Molecular consequence:
  • NM_000257.4:c.550A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002648665Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely pathogenic
(May 12, 2022) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

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

Genetic Testing in Pediatric Left Ventricular Noncompaction.

Miller EM, Hinton RB, Czosek R, Lorts A, Parrott A, Shikany AR, Ittenbach RF, Ware SM.

Circ Cardiovasc Genet. 2017 Dec;10(6). doi:pii: e001735. 10.1161/CIRCGENETICS.117.001735.

PubMed [citation]
PMID:
29212898
PMCID:
PMC8428628
See all PubMed Citations (4)

Details of each submission

From Ambry Genetics, SCV002648665.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

The p.K184Q variant (also known as c.550A>C), located in coding exon 5 of the MYH7 gene, results from an A to C substitution at nucleotide position 550. The lysine at codon 184 is replaced by glutamine, an amino acid with similar properties. This variant was initially described in two cases from a familial left ventricular non-compaction (LVNC) cohort; however, clinical details were limited and genetic testing results for family members were not provided (Miller EM et al. Circ Cardiovasc Genet, 2017 Dec;10:[Epub ahead of print]). This variant has been detected in additional LVNC probands and has been reported to segregate in affected family members with LVNC in at least three families (Collyer J et al. Int J Cardiol, 2022 Jan;347:29-37; GeneDx pers. comm.). This variant has also been reported in a sudden death case (Giudicessi JR et al. Heart Rhythm O2, 2021 Oct;2:431-438). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the majority of available evidence to date, this variant is likely to be pathogenic.

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

Last Updated: Sep 29, 2024