NM_000257.3(MYH7):c.3578G>A (p.Arg1193His) AND not provided

Clinical significance:Pathogenic (Last evaluated: May 13, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000158611.1

Allele description

NM_000257.3(MYH7):c.3578G>A (p.Arg1193His)

Gene:
MYH7:myosin heavy chain 7 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q11.2
Genomic location:
Preferred name:
NM_000257.3(MYH7):c.3578G>A (p.Arg1193His)
Other names:
p.R1193H:CGC>CAC
HGVS:
  • NC_000014.9:g.23419993C>T
  • NG_007884.1:g.20669G>A
  • NM_000257.3:c.3578G>A
  • NP_000248.2:p.Arg1193His
  • LRG_384t1:c.3578G>A
  • LRG_384:g.20669G>A
  • LRG_384p1:p.Arg1193His
  • NC_000014.8:g.23889202C>T
  • NM_000257.2:c.3578G>A
  • c.3578G>A
Protein change:
R1193H
Links:
dbSNP: rs397516187
NCBI 1000 Genomes Browser:
rs397516187
Allele Frequency:
0.00001(T)
Molecular consequence:
  • NM_000257.3:c.3578G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000208546GeneDxcriteria provided, single submitter
Pathogenic
(May 13, 2014)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000208546.9

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

p.Arg1193His (CGC>CAC): c.3578 G>A in exon 27 of the MYH7 gene (NM_000257.2). The R1193H mutation in the MYH7 gene has been published in one patient with DCM (Lakdawala N etal., 2012). Although R1193H results in a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties, the R1193 residue is conserved across species. Another missense mutation affecting the same residue (R1193S) has also been reported in association with DCM (Villard E et al., 2005). Furthermore, R1193H was not observed in approximately 6,400 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. In summary, R1193H in the MYH7 gene is interpreted as a disease-causing mutation. The variant is found in DCM,CARDIOMYOPATHY panel(s).

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

Last Updated: Sep 8, 2018