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NM_000257.4(MYH7):c.1166G>A (p.Gly389Glu) AND Hypertrophic cardiomyopathy

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 10, 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:
RCV001850060.5

Allele description [Variation Report for NM_000257.4(MYH7):c.1166G>A (p.Gly389Glu)]

NM_000257.4(MYH7):c.1166G>A (p.Gly389Glu)

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.1166G>A (p.Gly389Glu)
Other names:
p.G389E:GGG>GAG
HGVS:
  • NC_000014.9:g.23429320C>T
  • NG_007884.1:g.11342G>A
  • NM_000257.4:c.1166G>AMANE SELECT
  • NP_000248.2:p.Gly389Glu
  • LRG_384t1:c.1166G>A
  • LRG_384:g.11342G>A
  • NC_000014.8:g.23898529C>T
  • NM_000257.2:c.1166G>A
Protein change:
G389E
Links:
dbSNP: rs727503268
NCBI 1000 Genomes Browser:
rs727503268
Molecular consequence:
  • NM_000257.4:c.1166G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hypertrophic cardiomyopathy
Synonyms:
HYPERTROPHIC MYOCARDIOPATHY
Identifiers:
MONDO: MONDO:0005045; MeSH: D002312; MedGen: C0007194; Human Phenotype Ontology: HP:0001639

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002167201Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Sep 10, 2022) 		germlineclinical testing

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

Help

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

Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.

Hathaway J, Heliö K, Saarinen I, Tallila J, Seppälä EH, Tuupanen S, Turpeinen H, Kangas-Kontio T, Schleit J, Tommiska J, Kytölä V, Valori M, Muona M, Sistonen J, Gentile M, Salmenperä P, Myllykangas S, Paananen J, Alastalo TP, Heliö T, Koskenvuo J.

BMC Cardiovasc Disord. 2021 Mar 5;21(1):126. doi: 10.1186/s12872-021-01927-5.

PubMed [citation]
PMID:
33673806
PMCID:
PMC7934228
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV002167201.3

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

Description

This variant is not present in population databases (gnomAD no frequency). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt MYH7 protein function. ClinVar contains an entry for this variant (Variation ID: 164377). This missense change has been observed in individual(s) with hypertrophic cardiomyopathy (PMID: 27532257, 33673806). This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 389 of the MYH7 protein (p.Gly389Glu).

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

Last Updated: Sep 16, 2024