NM_000363.5(TNNI3):c.574C>T (p.Arg192Cys) AND Hypertrophic cardiomyopathy 7

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 1, 2023
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV003326361.1

Allele description [Variation Report for NM_000363.5(TNNI3):c.574C>T (p.Arg192Cys)]

NM_000363.5(TNNI3):c.574C>T (p.Arg192Cys)

Gene:

TNNI3:troponin I3, cardiac type [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.42

Genomic location:

Preferred name:

NM_000363.5(TNNI3):c.574C>T (p.Arg192Cys)

HGVS:

NC_000019.10:g.55151893G>A
NG_007866.2:g.10840C>T
NG_011829.2:g.2346C>T
NM_000363.5:c.574C>TMANE SELECT
NP_000354.4:p.Arg192Cys
LRG_432t1:c.574C>T
LRG_432:g.10840C>T
LRG_679:g.2346C>T
NC_000019.9:g.55663261G>A
NM_000363.4:c.574C>T

Protein change:

R192C

Links:

dbSNP: rs727503499

NCBI 1000 Genomes Browser:

rs727503499

Molecular consequence:

NM_000363.5:c.574C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hypertrophic cardiomyopathy 7
Synonyms:: Familial hypertrophic cardiomyopathy 7; CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7, MODIFIER OF; TNNI3-Related Familial Hypertrophic Cardiomyopathy
Identifiers:: MONDO: MONDO:0013369; MedGen: C1860752; OMIM: 613690

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003927891	Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)	no assertion criteria provided	Pathogenic (Apr 1, 2023)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003927891

Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)

no assertion criteria provided

Pathogenic
(Apr 1, 2023)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS), SCV003927891.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 20, 2024

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