NM_000257.3(MYH7):c.5380C>G (p.Gln1794Glu) AND not provided

Clinical significance:Likely pathogenic (Last evaluated: Apr 27, 2012)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000158697.1

Allele description

NM_000257.3(MYH7):c.5380C>G (p.Gln1794Glu)

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.5380C>G (p.Gln1794Glu)
Other names:
p.Q1794E:CAG>GAG
HGVS:
  • NC_000014.9:g.23415174G>C
  • NG_007884.1:g.25488C>G
  • NM_000257.3:c.5380C>G
  • NP_000248.2:p.Gln1794Glu
  • LRG_384t1:c.5380C>G
  • LRG_384:g.25488C>G
  • LRG_384p1:p.Gln1794Glu
  • NC_000014.8:g.23884383G>C
  • NM_000257.2:c.5380C>G
  • c.5380C>G
Protein change:
Q1794E
Links:
dbSNP: rs397516247
NCBI 1000 Genomes Browser:
rs397516247
Molecular consequence:
  • NM_000257.3:c.5380C>G - 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
SCV000208632GeneDxcriteria provided, single submitter
Likely pathogenic
(Apr 27, 2012)
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, SCV000208632.9

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

Description

p.Gln1794Glu (CAG>GAG): c.5380 C>G in exon 37 of the MYH7 gene (NM_000257.2). The Gln1794Glu variant in the MYH7 gene has not been reported previously as a disease-causing mutation or as a benign variant, to our knowledge. Gln1794Glu results in a semi-conservative amino acid substitution of a neutral, polar Glutamine residue with a negatively charged Glutamic acid residue at a position that is conserved across species throughout evolution. In silico analysis predicts Gln1794Glu is damaging to the structure/function of the protein, and mutations affecting nearby residues (Asp1792Gly, Glu1801Gly) have been reported in association with DCM, supporting the functional importance of this region of the protein. The NHLBI ESP Exome Variant Server reports Gln1794Glu was not observed in approximately 5,000 samples from individuals of European and African American backgrounds, indicating it is not a common benign variant in these populations. Therefore, Gln1794Glu is a strong candidate for a disease-causing mutation, however the possibility that it is a benign variant cannot be excluded. The variant is found in DCM panel(s).

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

Last Updated: Jul 16, 2018