NM_000363.5(TNNI3):c.508C>G (p.Arg170Gly) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 22, 2013
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:: RCV000152077.4

Allele description [Variation Report for NM_000363.5(TNNI3):c.508C>G (p.Arg170Gly)]

NM_000363.5(TNNI3):c.508C>G (p.Arg170Gly)

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.508C>G (p.Arg170Gly)

HGVS:

NC_000019.10:g.55154071G>C
NG_007866.2:g.8662C>G
NG_011829.2:g.168C>G
NM_000363.5:c.508C>GMANE SELECT
NP_000354.4:p.Arg170Gly
LRG_432t1:c.508C>G
LRG_432:g.8662C>G
LRG_679:g.168C>G
NC_000019.9:g.55665439G>C
NM_000363.4:c.508C>G

Protein change:

R170G

Links:

dbSNP: rs727503504

NCBI 1000 Genomes Browser:

rs727503504

Molecular consequence:

NM_000363.5:c.508C>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000200715	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Uncertain significance (May 22, 2013)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 20031618, 24033266

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000200715

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Uncertain significance
(May 22, 2013)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	1	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy.

Kaski JP, Syrris P, Esteban MT, Jenkins S, Pantazis A, Deanfield JE, McKenna WJ, Elliott PM.

Circ Cardiovasc Genet. 2009 Oct;2(5):436-41. doi: 10.1161/CIRCGENETICS.108.821314. Epub 2009 Jul 16.

PubMed [citation]

PMID:: 20031618

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]

PMID:: 24033266
PMCID:: PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000200715.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (2)

Description

Variant classified as Uncertain Significance - Favor Pathogenic. The Arg170Gly v ariant in TNNI3 has not been reported in individuals with cardiomyopathy or in l arge population studies. Computational analyses (biochemical amino acid properti es, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. Of note, a different amino acid change at the same location, Arg170Gln, has been reported in one individual with HCM (K aski, 2009) and identified by our laboratory in 6 children with RCM (in 2 of the se, parental testing revealed de novo occurrence). This increases the likelihood that the Arg170Gly variant is disease causing; however, additional information is still needed to fully assess the clinical significance of this variant.

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

Last Updated: Feb 28, 2024

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