• not current

NM_000257.3(MYH7):c.3578G>A (p.Arg1193His) AND Primary familial hypertrophic cardiomyopathy

Clinical significance:Likely pathogenic (Last evaluated: Sep 25, 2013)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000168889.2

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)

Name:
Primary familial hypertrophic cardiomyopathy (HCM)
Synonyms:
Hypertrophic cardiomyopathy
Identifiers:
MedGen: C0949658; OMIM: PS192600

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000219941CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontariocriteria provided, single submitter
Likely pathogenic
(Sep 25, 2013)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.

Richards CS, Bale S, Bellissimo DB, Das S, Grody WW, Hegde MR, Lyon E, Ward BE; Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee..

Genet Med. 2008 Apr;10(4):294-300. doi: 10.1097/GIM.0b013e31816b5cae.

PubMed [citation]
PMID:
18414213

Details of each submission

From CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario, SCV000219941.2

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

Description

9 November 2012: 102443.000 is negative for this family specific variant. In this patient's family member, Partners interpreted the presence of this variant as follows: "The Arg1193His variant in MYH7 has been identified in 3 individuals with DCM and segregated with disease in 3 affected relatives, including the obligate carrier (Lakdawala 2012, LMM unpublished data). Arg at position 1193 is highly conserved across evolutionarily distant species and the change to His was predicted to be pathogenic using a computational tool, which was validated by our laboratory using a set of cardiomyopathy variants with well-established clinical significance. This tool's pathogenic prediction is estimated to be correct 94% of the time (Jordan 2011). In summary, the available data suggests that this variant is likely to be pathogenic, though additional studies are required to fully establish its clinical significance".

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

Last Updated: Apr 12, 2018