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NM_000257.4(MYH7):c.1700G>A (p.Arg567His) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 4, 2023
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:
RCV003298054.2

Allele description [Variation Report for NM_000257.4(MYH7):c.1700G>A (p.Arg567His)]

NM_000257.4(MYH7):c.1700G>A (p.Arg567His)

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.1700G>A (p.Arg567His)
Other names:
NM_000257.4(MYH7):c.1700G>A
HGVS:
  • NC_000014.9:g.23427773C>T
  • NG_007884.1:g.12889G>A
  • NM_000257.4:c.1700G>AMANE SELECT
  • NP_000248.2:p.Arg567His
  • LRG_384t1:c.1700G>A
  • LRG_384:g.12889G>A
  • NC_000014.8:g.23896982C>T
  • NM_000257.2:c.1700G>A
  • NM_000257.3:c.1700G>A
  • c.1700G>A
Protein change:
R567H
Links:
dbSNP: rs377491278
NCBI 1000 Genomes Browser:
rs377491278
Molecular consequence:
  • NM_000257.4:c.1700G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV003993379Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Uncertain significance
(Jun 4, 2023)
germlineclinical testing

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

Citation Link

Summary from all submissions

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

Citations

PubMed

The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.

Pugh TJ, Kelly MA, Gowrisankar S, Hynes E, Seidman MA, Baxter SM, Bowser M, Harrison B, Aaron D, Mahanta LM, Lakdawala NK, McDermott G, White ET, Rehm HL, Lebo M, Funke BH.

Genet Med. 2014 Aug;16(8):601-8. doi: 10.1038/gim.2013.204. Epub 2014 Feb 6.

PubMed [citation]
PMID:
24503780

Details of each submission

From Ambry Genetics, SCV003993379.2

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

Description

The p.R567H variant (also known as c.1700G>A), located in coding exon 14 of the MYH7 gene, results from a G to A substitution at nucleotide position 1700. The arginine at codon 567 is replaced by histidine, an amino acid with highly similar properties. This variant has been detected in individuals with dilated cardiomyopathy (DCM) with and without features of noncompaction, some of whom had variants in other cardiomyopathy-related genes, and was reported to segregate with disease in a family with DCM (Pugh TJ et al. Genet Med, 2014 Aug;16:601-8; external communication). This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. 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: Jul 15, 2024