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NM_000132.4(F8):c.1834C>T (p.Arg612Cys) AND Familial aortopathy

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 8, 2024
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:
RCV004540992.1

Allele description [Variation Report for NM_000132.4(F8):c.1834C>T (p.Arg612Cys)]

NM_000132.4(F8):c.1834C>T (p.Arg612Cys)

Gene:
F8:coagulation factor VIII [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_000132.4(F8):c.1834C>T (p.Arg612Cys)
Other names:
F8, ARG593CYS; R593C; NM_000132.4(F8):c.1834C>T
HGVS:
  • NC_000023.11:g.154953961G>A
  • NG_011403.2:g.73763C>T
  • NM_000132.4:c.1834C>TMANE SELECT
  • NP_000123.1:p.Arg612Cys
  • NP_000123.1:p.Arg612Cys
  • LRG_555t1:c.1834C>T
  • LRG_555:g.73763C>T
  • LRG_555p1:p.Arg612Cys
  • NC_000023.10:g.154182236G>A
  • NG_011403.1:g.73763C>T
  • NM_000132.3:c.1834C>T
  • P00451:p.Arg612Cys
Protein change:
R612C; ARG593CYS
Links:
UniProtKB: P00451#VAR_001120; OMIM: 300841.0153; dbSNP: rs137852428
NCBI 1000 Genomes Browser:
rs137852428
Molecular consequence:
  • NM_000132.4:c.1834C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Familial aortopathy
Identifiers:
MedGen: CN078214

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005040802Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Pathogenic
(Mar 8, 2024) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

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

Citations

PubMed

Intensive peri-operative use of factor VIII and the Arg593-->Cys mutation are risk factors for inhibitor development in mild/moderate hemophilia A.

Eckhardt CL, Menke LA, van Ommen CH, van der Lee JH, Geskus RB, Kamphuisen PW, Peters M, Fijnvandraat K.

J Thromb Haemost. 2009 Jun;7(6):930-7. doi: 10.1111/j.1538-7836.2009.03357.x.

PubMed [citation]
PMID:
19548904

Detection of new mutations and molecular pathology of mild and moderate haemophilia A patients from southern Brazil.

Rosset C, Vieira IA, Sinigaglia M, Gorziza RP, Salzano FM, Bandinelli E.

Haemophilia. 2013 Sep;19(5):773-81. doi: 10.1111/hae.12172. Epub 2013 May 28.

PubMed [citation]
PMID:
23711237

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV005040802.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024